CHN2
MCID: NRP064
MIFTS: 35

Neuropathy, Congenital Hypomyelinating, 2 (CHN2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neuropathy, Congenital Hypomyelinating, 2

MalaCards integrated aliases for Neuropathy, Congenital Hypomyelinating, 2:

Name: Neuropathy, Congenital Hypomyelinating, 2 56 73
Hypomyelinating Neuropathy, Congenital, 2 56 73
Congenital Hypomyelinating Neuropathy 2 29 6
Chn2 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset at birth or in utero


HPO:

31
neuropathy, congenital hypomyelinating, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Neuropathy, Congenital Hypomyelinating, 2

OMIM : 56 Congenital hypomyelinating neuropathy-2 is an autosomal dominant neurologic disorder characterized by early-onset hypotonia, severely delayed motor development, muscle weakness with areflexia, and severely decreased nerve conduction velocities (NCV) resulting from improper myelination of axons. The severity is variable: some patients may present at birth with contractures and respiratory insufficiency, whereas others may achieve walking (summary by Warner et al., 1996). CHN shows significant phenotypic overlap with Dejerine-Sottas syndrome (DSS; 145900), which is also a neuropathy with early onset. Some classify the disorders differently, noting that CHN is characterized by hypo- or amyelination resulting from a congenital defect in myelin formation, whereas DSS has features of continuous myelin breakdown, with demyelination and remyelination (summary by Smit et al., 2008). For a discussion of genetic heterogeneity of CHN, see CHN1 (605253). (618184)

MalaCards based summary : Neuropathy, Congenital Hypomyelinating, 2, also known as hypomyelinating neuropathy, congenital, 2, is related to schizophrenia and duodenum adenocarcinoma. An important gene associated with Neuropathy, Congenital Hypomyelinating, 2 is MPZ (Myelin Protein Zero). Affiliated tissues include liver, skeletal muscle and brain, and related phenotypes are scoliosis and respiratory insufficiency due to muscle weakness

UniProtKB/Swiss-Prot : 73 Neuropathy, congenital hypomyelinating, 2: A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN2 inheritance is autosomal dominant.

Related Diseases for Neuropathy, Congenital Hypomyelinating, 2

Diseases in the Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive family:

Neuropathy, Congenital Hypomyelinating, 2 Neuropathy, Congenital Hypomyelinating, 3

Diseases related to Neuropathy, Congenital Hypomyelinating, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 8, show less)
# Related Disease Score Top Affiliating Genes
1 schizophrenia 11.5
2 duodenum adenocarcinoma 11.2
3 hepatosplenic t-cell lymphoma 11.2
4 diabetes mellitus, noninsulin-dependent 10.2
5 severe combined immunodeficiency 10.2
6 substance dependence 10.2
7 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.4 RHO MPZ
8 bardet-biedl syndrome 9.2 RHO MPZ

Graphical network of the top 20 diseases related to Neuropathy, Congenital Hypomyelinating, 2:



Diseases related to Neuropathy, Congenital Hypomyelinating, 2

Symptoms & Phenotypes for Neuropathy, Congenital Hypomyelinating, 2

Human phenotypes related to Neuropathy, Congenital Hypomyelinating, 2:

31 (showing 14, show less)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 respiratory insufficiency due to muscle weakness 31 HP:0002747
3 skeletal muscle atrophy 31 HP:0003202
4 areflexia 31 HP:0001284
5 decreased fetal movement 31 HP:0001558
6 abnormality of the foot 31 HP:0001760
7 hyporeflexia 31 HP:0001265
8 decreased motor nerve conduction velocity 31 HP:0003431
9 severe muscular hypotonia 31 HP:0006829
10 poor head control 31 HP:0002421
11 inability to walk 31 HP:0002540
12 hypokinesia 31 HP:0002375
13 facial diplegia 31 HP:0001349
14 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
decreased motor nerve conduction velocities, severe (less than 10 m/s)
absent sensory conduction
little or no compact myelin seen on sural nerve biopsy
more
Muscle Soft Tissue:
hypokinesia
muscle atrophy
hypotonia, severe
poor fiber type differentiation caused by abnormal innervation seen on muscle biopsy

Skeletal Feet:
foot deformities

Abdomen Gastrointestinal:
poor swallowing due to muscle weakness

Skeletal Hands:
arthrogryposis of the hands

Respiratory:
respiratory insufficiency due to muscle weakness

Neurologic Central Nervous System:
poor head control
inability to walk
delayed walking
delayed motor development, severe

Head And Neck Face:
facial diplegia

Prenatal Manifestations Movement:
decreased fetal movements

Skeletal:
contractures, distal (in some patients)

Clinical features from OMIM:

618184

Drugs & Therapeutics for Neuropathy, Congenital Hypomyelinating, 2

Search Clinical Trials , NIH Clinical Center for Neuropathy, Congenital Hypomyelinating, 2

Genetic Tests for Neuropathy, Congenital Hypomyelinating, 2

Genetic tests related to Neuropathy, Congenital Hypomyelinating, 2:

# Genetic test Affiliating Genes
1 Congenital Hypomyelinating Neuropathy 2 29 MPZ

Anatomical Context for Neuropathy, Congenital Hypomyelinating, 2

MalaCards organs/tissues related to Neuropathy, Congenital Hypomyelinating, 2:

40
Liver, Skeletal Muscle, Brain, Kidney, Breast, Bone, T Cells

Publications for Neuropathy, Congenital Hypomyelinating, 2

Articles related to Neuropathy, Congenital Hypomyelinating, 2:

(showing 157, show less)
# Title Authors PMID Year
1
Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family. 6 56
17825553 2008
2
A novel MPZ gene mutation in congenital neuropathy with hypomyelination. 56 6
15184631 2004
3
Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. 6 56
12953275 2003
4
Congenital hypomyelination due to myelin protein zero Q215X mutation. 56
10319895 1999
5
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. 56
8816708 1996
6
Efficacy and Safety of Dulaglutide by Baseline HbA1c in Chinese Patients with Type 2 Diabetes: A Post Hoc Analysis. 61
32277401 2020
7
A Large-scale Drug Repositioning Survey for SARS-CoV-2 Antivirals. 61
32511357 2020
8
Identification of a truncated β1-chimaerin variant that inactivates nuclear Rac1. 61
31871052 2020
9
Candidate Gene and Genome-Wide Association Studies for Circulating Leptin Levels Reveal Population and Sex-Specific Associations in High Cardiovascular Risk Mediterranean Subjects. 61
31766143 2019
10
Integrated genome-wide methylation and expression analyses reveal functional predictors of response to antidepressants. 61
31594917 2019
11
Efficacy and Safety of Dulaglutide Versus Insulin Glargine in Chinese T2DM Patients: A Subgroup Analysis of a Randomized Trial (AWARD-CHN2). 61
31228090 2019
12
CHN2 Promoter Methylation Change May Be Associated With Methamphetamine Dependence. 61
29719347 2017
13
Subtype-Specific Genes that Characterize Subpopulations of Callosal Projection Neurons in Mouse Identify Molecularly Homologous Populations in Macaque Cortex. 61
26874185 2017
14
Maternal BMI as a predictor of methylation of obesity-related genes in saliva samples from preschool-age Hispanic children at-risk for obesity. 61
28068899 2017
15
Multi-electron redox processes at a Zr(iv) center facilitated by an appended redox-active cobalt-containing metalloligand. 61
27326824 2016
16
The synthesis, structure and reactivity of an imine-stabilized carboranylphosphorus(i) compound. 61
27180610 2016
17
Genome-Wide Interaction with Insulin Secretion Loci Reveals Novel Loci for Type 2 Diabetes in African Americans. 61
27448167 2016
18
Genome-wide analysis of DNA methylation in subjects with type 1 diabetes identifies epigenetic modifications associated with proliferative diabetic retinopathy. 61
26248552 2015
19
Comprehensive molecular pathology analysis of small bowel adenocarcinoma reveals novel targets with potential for clinical utility. 61
26315110 2015
20
High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate. 61
25613075 2015
21
Chimerin 2 genetic polymorphisms are associated with non-proliferative diabetic retinopathy in Taiwanese type 2 diabetic patients. 61
24854763 2014
22
Genome characterization of sugarcane yellow leaf virus from China reveals a novel recombinant genotype. 61
24395076 2014
23
Influence of model grid resolution on NO2 vertical column densities over East Asia. 61
24843914 2014
24
Generation of C(2)F(5)CHN(2) in situ and its first reaction: [3+2] cycloaddition with alkenes. 61
24700600 2014
25
Analysis of common and coding variants with cardiovascular disease in the Diabetes Heart Study. 61
24725463 2014
26
Genome-wide association and pharmacological profiling of 29 anticancer agents using lymphoblastoid cell lines. 61
24444404 2014
27
Evaluation of candidate nephropathy susceptibility genes in a genome-wide association study of African American diabetic kidney disease. 61
24551085 2014
28
β3-chimaerin, a novel member of the chimaerin Rac-GAP family. 61
24430297 2014
29
Integrative genomic and transcriptomic analysis identified candidate genes implicated in the pathogenesis of hepatosplenic T-cell lymphoma. 61
25057852 2014
30
Genome-wide association study of atypical psychosis. 61
24132900 2013
31
Association of a novel polymorphism of the β2-chimaerin gene (CHN2) with smoking. 61
23941981 2013
32
Over-expression of the miRNA cluster at chromosome 14q32 in the alcoholic brain correlates with suppression of predicted target mRNA required for oligodendrocyte proliferation. 61
23747354 2013
33
Cysteine proteinase inhibitors regulate human and mouse osteoclastogenesis by interfering with RANK signaling. 61
23572233 2013
34
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 61
22210626 2012
35
CPVL/CHN2 genetic variant is associated with diabetic retinopathy in Chinese type 2 diabetic patients. 61
21911749 2011
36
Genetic associations in diabetic nephropathy: a meta-analysis. 61
21127830 2011
37
Replication study for the association between four Loci identified by a genome-wide association study on European American subjects with type 1 diabetes and susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes. 61
20460425 2010
38
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism. 61
19720790 2009
39
Characterization of cysteine proteases from the carcinogenic liver fluke, Opisthorchis viverrini. 61
18092178 2008
40
Comparison of cysteine peptidase activities in Trichobilharzia regenti and Schistosoma mansoni cercariae. 61
17517170 2007
41
The cysteine proteinase inhibitor Z-Phe-Ala-CHN2 alters cell morphology and cell division activity of Trypanosoma brucei bloodstream forms in vivo. 61
17328798 2007
42
The crystal structure of human dipeptidyl peptidase I (cathepsin C) in complex with the inhibitor Gly-Phe-CHN2. 61
17020538 2007
43
Labelling of four distinct trophozoite falcipains of Plasmodium falciparum by a cystatin-derived probe. 61
15899703 2005
44
Characterization of human ARHGAP10 gene in silico. 61
15375573 2004
45
Osteoclastogenesis is decreased by cysteine proteinase inhibitors. 61
15003789 2004
46
Molecular and enzymatic properties of a cathepsin L-like proteinase with distinct substrate specificity from northern shrimp (Pandalus borealis). 61
14574613 2004
47
Microarray analysis of gene-expression profiles in diffuse large B-cell lymphoma: identification of genes related to disease progression. 61
12716467 2002
48
Peptidyl diazomethyl ketones inhibit the human rhinovirus 3C protease: effect on virus yield by partial block of P3 polyprotein processing. 61
11900346 2001
49
Dipeptide vinyl sulfones suitable for intracellular inhibition of dipeptidyl peptidase I. 61
11367515 2001
50
Altered expression of cruzipain and a cathepsin B-like target in a Trypanosoma cruzi cell line displaying resistance to synthetic inhibitors of cysteine-proteinases. 61
10924756 2000
51
Trypanosoma brucei: killing of bloodstream forms in vitro and in vivo by the cysteine proteinase inhibitor Z-phe-ala-CHN2. 61
10092476 1999
52
Dipeptidyl peptidase I and III activities of adult schistosomes. 61
10205803 1999
53
Calpain mediates ischemic injury of the liver through modulation of apoptosis and necrosis. 61
9869615 1999
54
Cysteine proteinase plays a key role for the initiation of yolk digestion during development of Xenopus laevis. 61
9865976 1998
55
m-Calpain subunits remain associated in the presence of calcium. 61
9801150 1998
56
Cysteine proteinases and matrix metalloproteinases play distinct roles in the subosteoclastic resorption zone. 61
9738514 1998
57
The synthesis and utilization of 2,4-dinitrophenyl-labeled irreversible peptidyl diazomethyl ketone inhibitors. 61
9716415 1998
58
Quantification of cathepsins B and L in cells. 61
9601080 1998
59
Purification and properties of embryonic cysteine proteinase which participates in yolk-lysis of Xenopus laevis. 61
9734341 1998
60
Control of breast tumor cell growth using a targeted cysteine protease inhibitor. 61
9500448 1998
61
Fasciola hepatica cysteine proteinases: immunodominant antigens in human fascioliasis. 61
9430523 1997
62
Catalytic properties of 26 S and 20 S proteasomes and radiolabeling of MB1, LMP7, and C7 subunits associated with trypsin-like and chymotrypsin-like activities. 61
9312091 1997
63
Tumor-associated cysteine proteinase activities in human melanoma cells and fibroblasts of different origin. 61
9270877 1997
64
Calpain, an upstream regulator of thymocyte apoptosis. 61
9103432 1997
65
Overexpression of cruzipain, the major cysteine proteinase of Trypanosoma cruzi, is associated with enhanced metacyclogenesis. 61
9119029 1997
66
Specific catalytic activity of cathepsin S in comparison to cathepsins B and L along the rat nephron. 61
9088533 1997
67
Crystallization and preliminary crystallographic studies of a new crystal form of papain from Carica papaya. 61
9511969 1997
68
Inhibition of the growth of WI-38 fibroblasts by benzyloxycarbonyl-Leu-Leu-Tyr diazomethyl ketone: evidence that cleavage of p53 by a calpain-like protease is necessary for G1 to S-phase transition. 61
9018111 1997
69
Biotin-labelled peptidyl diazomethane inhibitors derived from the substrate-like sequence of cystatin: targeting of the active site of cruzipain, the major cysteine proteinase of Trypanosoma cruzi. 61
8809025 1996
70
Streptococcal cysteine proteinase releases kinins: a virulence mechanism. 61
8760820 1996
71
The insulin-induced down-regulation of IRS-1 in 3T3-L1 adipocytes is mediated by a calcium-dependent thiol protease. 61
8898350 1996
72
Isolation of a Chinese hamster ovary cell clone possessing decreased mu-calpain content and a reduced proliferative growth rate. 61
8663205 1996
73
Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. 61
8639781 1996
74
Isolation and characterization of cysteine proteinase in thrombotic thrombocytopenic purpura. 61
8639442 1996
75
Induction of the mitochondrial permeability transition by protease activity in rats: a mechanism of hepatocyte necrosis. 61
8566604 1996
76
The developmental expression of cysteine proteinases in Schistosoma mansoni. 61
9198585 1996
77
Conserved cystatin segments as models for designing specific substrates and inhibitors of cysteine proteinases. 61
8747425 1995
78
Low molecular weight proteinuria in Chinese herbs nephropathy. 61
8544416 1995
79
Purification and characterization of procathepsin L, a self-processing zymogen of guinea pig spermatozoa that acts on a cathepsin D assay substrate. 61
7487106 1995
80
Novel dipeptide aldehydes are proteasome inhibitors and block the MHC-I antigen-processing pathway. 61
7636233 1995
81
An ultrastructural evaluation of the effects of cysteine-proteinase inhibitors on osteoclastic resorptive functions. 61
7648488 1995
82
Assessment of cathepsin L activity by use of the inhibitor CA-074 compared to cathepsin B activity in human lung tumor tissue. 61
7612192 1995
83
Cleavage of immunoglobulin G by excretory-secretory cathepsin S-like protease of Spirometra mansoni plerocercoid. 61
7831096 1994
84
Ca(2+)-activated neutral protease is active in the erythrocyte membrane in its nonautolyzed 80-kDa form. 61
7961733 1994
85
Inhibition of growth of human TE2 and C-33A cells by the cell-permeant calpain inhibitor benzyloxycarbonyl-Leu-Leu-Tyr diazomethyl ketone. 61
7957664 1994
86
In vitro embryotoxicity of the cysteine proteinase inhibitors benzyloxycarbonyl-phenylalanine-alanine-diazomethane (Z-Phe-Ala-CHN2) and benzyloxycarbonyl-phenylalanine-phenylalanine-diazomethane (Z-Phe-Phe-CHN2). 61
7871486 1994
87
Secretion of cysteine proteinase activity by the zoonotic hookworm Ancylostoma caninum. 61
7943555 1994
88
Regulation of prolyl oligopeptidase activity in regenerating rat liver. 61
8161566 1994
89
Unique cleavage specificity of 'prohormone thiol protease' related to proenkephalin processing. 61
8137939 1994
90
Fasciola hepatica: a secreted cathepsin L-like proteinase cleaves host immunoglobulin. 61
8300306 1993
91
The affinity-labelling of cathepsin S with peptidyl diazomethyl ketones. Comparison with the inhibition of cathepsin L and calpain. 61
8243643 1993
92
Identification and localization of a novel cathepsin S-like proteinase in guinea pig spermatozoa. 61
8342942 1993
93
Processing of the beta-amyloid precursor. Multiple proteases generate and degrade potentially amyloidogenic fragments. 61
8344942 1993
94
Characterization of the cysteine proteinases of the common liver fluke Fasciola hepatica using novel, active-site directed affinity labels. 61
8341585 1993
95
pH-dependent nonlysosomal proteolysis contributes to lethal anoxic injury of rat hepatocytes. 61
8476058 1993
96
Affinity labelling of the Ca(2+)-activated neutral proteinase (calpain) in intact human platelets. 61
8424777 1993
97
The specificity and elastinolytic activities of bovine cathepsins S and H. 61
1444473 1992
98
Cystatin C and cathepsin B in human colon carcinoma: expression by cell lines and matrix degradation. 61
1399147 1992
99
Lysosomal cysteine endopeptidases mediate interleukin 1-stimulated cartilage proteoglycan degradation. 61
1445226 1992
100
Inhibition of cysteine proteinases in lysosomes and whole cells. 61
1637341 1992
101
Inhibitors of the major cysteinyl proteinase (GP57/51) impair host cell invasion and arrest the intracellular development of Trypanosoma cruzi in vitro. 61
1620157 1992
102
The application of a novel biotinylated affinity label for the detection of a cathepsin B-like precursor produced by breast-tumour cells in culture. 61
1575692 1992
103
Proteolytic processing and glycosylation of cathepsin B. The role of the primary structure of the latent precursor and of the carbohydrate moiety for cell-type-specific molecular forms of the enzyme. 61
1312333 1992
104
Human osteoclastomas contain multiple forms of cathepsin B. 61
1540624 1992
105
Characterization of an endopeptidase of Trypanosoma brucei brucei. 61
1731636 1992
106
Cysteine proteinases from Schistosoma haematobium adult worms. 61
1371156 1992
107
Spectrum of toxicities of amino acid methyl esters for myeloid cells is determined by distinct metabolic pathways. 61
1737105 1992
108
Characterisation of a cysteine protease from bloodstream forms of Trypanosoma congolense. 61
1740149 1992
109
Cystatin C based peptidyl diazomethanes as cysteine proteinase inhibitors: influence of the peptidyl chain length. 61
1284427 1992
110
Regulated secretion of mature cathepsin B from rat exocrine pancreatic cells. 61
1802707 1991
111
The endo/lysosomal protease cathepsin B is able to process conalbumin fragments for presentation to T cells. 61
1769688 1991
112
Collagenolytic cysteine proteinases of bone tissue. Cathepsin B, (pro)cathepsin L and a cathepsin L-like 70 kDa proteinase. 61
1930136 1991
113
Cathepsin B- and L-like activities at local gingival sites of chronic periodontitis patients. 61
1894742 1991
114
Evidence suggesting a role for cathepsin L in an experimental model of glomerulonephritis. 61
1898042 1991
115
Cathepsin B and L activities in isolated osteoclasts. 61
1883385 1991
116
Evidence for pyroglutamyl peptidase I and prolyl endopeptidase activities in the rat insulinoma cell line RINm 5F: lack of relationship with TRH metabolism. 61
1681421 1991
117
Expression of lysosomal cathepsin B during calf myoblast-myotube differentiation. Characterization of a cDNA encoding bovine cathepsin B. 61
1856234 1991
118
Proteolytic processing of thyroglobulin by extracts of thyroid lysosomes. 61
1903699 1991
119
Progesterone-dependent cathepsin L proteolytic activity in cat uterine flushings. 61
2043733 1991
120
Detection of cathepsin B in tumor cytosol and urine of breast cancer patients. 61
1801722 1991
121
Glomerular basement membrane degradation by endogenous cysteine proteinases in isolated rat glomeruli. 61
2232482 1990
122
Specific labeling of cysteine proteinases in pathogenic and nonpathogenic Entamoeba histolytica. 61
2323821 1990
123
Purification and properties of different isoforms of bovine cathepsin B. 61
2223009 1990
124
The specificity of trichomonad cysteine proteinases analysed using fluorogenic substrates and specific inhibitors. 61
2320056 1990
125
Cystatin C, a human proteinase inhibitor, blocks replication of herpes simplex virus. 61
2153254 1990
126
Characterization of a cathepsin L-like enzyme secreted from human pancreatic cancer cell line HPC-YP. 61
2297706 1990
127
The use of benzyloxycarbonyl[125I]iodotyrosylalanyldiazomethane as a probe for active cysteine proteinases in human tissues. 61
2597135 1989
128
Cathepsin L activity in alveolar macrophages of rats: response to cigarette smoke. 61
2637753 1989
129
The inactivation of the cysteinyl exopeptidases cathepsin H and C by affinity-labelling reagents. 61
2818577 1989
130
Elastin degradation by human alveolar macrophages. A prominent role of metalloproteinase activity. 61
2712452 1989
131
Bacterial growth blocked by a synthetic peptide based on the structure of a human proteinase inhibitor. 61
2643059 1989
132
The identification of active forms of cysteine proteinases in Kirsten-virus-transformed mouse fibroblasts by use of a specific radiolabelled inhibitor. 61
2537618 1989
133
Enkephalin photoaffinity probes: synthesis and binding properties. 61
2853837 1988
134
The design of peptidyldiazomethane inhibitors to distinguish between the cysteine proteinases calpain II, cathepsin L and cathepsin B. 61
2845932 1988
135
Human kidney cathepsins B and L. Characterization and potential role in degradation of glomerular basement membrane. 61
2844149 1988
136
Cathepsin L--a latent proteinase in guinea pig sperm. 61
3348813 1988
137
Synthesis and properties of Cbz-Phe-Arg-CHN2 (benzyloxycarbonylphenylalanylarginyldiazomethane) as a proteinase inhibitor. 61
3355540 1988
138
Active center differences between cathepsins L and B: the S1 binding region. 61
3342870 1988
139
Rat brain cathepsin L: characterization and differentiation from cathepsin B utilizing opioid peptides. 61
3688881 1987
140
Purification and amino acid sequence of chicken liver cathepsin L. 61
3676277 1987
141
The role of aspartic and cysteine proteinases in albumin degradation by rat kidney cortical lysosomes. 61
3304168 1987
142
The effects of inhibitors of cysteine-proteinases and collagenase on the resorptive activity of isolated osteoclasts. 61
2827713 1987
143
Involvement of thiol proteases in galactosialidosis. 61
3084137 1986
144
Specific inhibition of post proline cleaving enzyme by benzyloxycarbonyl-Gly-Pro-diazomethyl ketone. 61
3511911 1986
145
Some properties of human and bovine brain cathepsin B. 61
4088429 1985
146
Rat mammary gland in culture secretes a stable high molecular weight form of cathepsin L. 61
4038303 1985
147
Multiple sulfatase deficiency: degradation of arylsulfatase A and B after endocytosis in fibroblasts. 61
2863139 1985
148
Antibody to mannose 6-phosphate specific receptor induces receptor deficiency in human fibroblasts. 61
6086314 1984
149
The purification and properties of cathepsin L from rabbit liver. 61
6421281 1984
150
Activity of lysosomal cysteine proteinase during differentiation of rat skeletal muscle. 61
6354179 1983
151
An exploration of the primary specificity site of cathepsin B. 61
6847195 1983
152
Paradoxical effect of leupeptin in vivo on cathepsin B activity. 61
6838521 1983
153
The regulation of proteolysis in normal fibroblasts as they approach confluence. Evidence for the participation of the lysosomal system. 61
7165734 1982
154
Inhibition of cysteine proteinase activity by Z-Phe-Phe-diazomethane and of aspartic proteinase activity by pepstatin in different organs from some animals and isolated cells from rat liver. 61
7051705 1982
155
Inhibition of bone resorption in culture by inhibitors of thiol proteinases. 61
6272702 1980
156
The inhibition of macrophage protein turnover by a selective inhibitor of thiol proteinases. 61
7378057 1980
157
Protein degradation in cell cultures: general considerations on mechanisms and regulation. 61
6985868 1980

Variations for Neuropathy, Congenital Hypomyelinating, 2

ClinVar genetic disease variations for Neuropathy, Congenital Hypomyelinating, 2:

6 (showing 34, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RHO NM_000539.3(RHO):c.549dup (p.Gln184fs)duplication Pathogenic 590911 rs1560046845 3:129251111-129251112 3:129532268-129532269
2 MPZ MPZ, 3-BP DEL/1-BP INS, NT550indel Pathogenic 14192
3 MPZ NM_000530.8(MPZ):c.371C>A (p.Thr124Lys)SNV Pathogenic 14196 rs121913595 1:161276575-161276575 1:161306785-161306785
4 MPZ NM_000530.8(MPZ):c.200G>A (p.Arg67His)SNV Conflicting interpretations of pathogenicity 237875 rs201720099 1:161277082-161277082 1:161307292-161307292
5 MPZ NM_000530.8(MPZ):c.637G>C (p.Gly213Arg)SNV Conflicting interpretations of pathogenicity 246572 rs202176679 1:161275906-161275906 1:161306116-161306116
6 MPZ NM_000530.8(MPZ):c.*360C>GSNV Conflicting interpretations of pathogenicity 876416 1:161275306-161275306 1:161305516-161305516
7 MPZ NM_000530.8(MPZ):c.-49C>ASNV Conflicting interpretations of pathogenicity 293315 rs750777955 1:161279744-161279744 1:161309954-161309954
8 MPZ NM_000530.8(MPZ):c.*52G>ASNV Conflicting interpretations of pathogenicity 293311 rs774701563 1:161275614-161275614 1:161305824-161305824
9 MPZ NM_000530.8(MPZ):c.*743C>TSNV Conflicting interpretations of pathogenicity 293305 rs140992541 1:161274923-161274923 1:161305133-161305133
10 MPZ NM_000530.8(MPZ):c.*195G>TSNV Conflicting interpretations of pathogenicity 293310 rs150182811 1:161275471-161275471 1:161305681-161305681
11 MPZ NM_000530.8(MPZ):c.*1048A>TSNV Conflicting interpretations of pathogenicity 293299 rs71639057 1:161274618-161274618 1:161304828-161304828
12 MPZ NM_000530.8(MPZ):c.77C>T (p.Pro26Leu)SNV Conflicting interpretations of pathogenicity 293314 rs530923760 1:161277205-161277205 1:161307415-161307415
13 MPZ NM_000530.8(MPZ):c.428C>T (p.Thr143Met)SNV Uncertain significance 531684 rs750724650 1:161276518-161276518 1:161306728-161306728
14 MPZ NM_000530.8(MPZ):c.*1074A>CSNV Uncertain significance 293298 rs886045471 1:161274592-161274592 1:161304802-161304802
15 MPZ NM_000530.8(MPZ):c.*251C>GSNV Uncertain significance 293309 rs772995394 1:161275415-161275415 1:161305625-161305625
16 MPZ NM_000530.8(MPZ):c.*1020G>ASNV Uncertain significance 293300 rs886045472 1:161274646-161274646 1:161304856-161304856
17 MPZ NM_000530.8(MPZ):c.*954C>ASNV Uncertain significance 293301 rs372340608 1:161274712-161274712 1:161304922-161304922
18 MPZ NM_000530.8(MPZ):c.*341A>GSNV Uncertain significance 874466 1:161275325-161275325 1:161305535-161305535
19 MPZ NM_000530.8(MPZ):c.*102C>TSNV Uncertain significance 874516 1:161275564-161275564 1:161305774-161305774
20 MPZ NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)SNV Uncertain significance 873574 1:161276502-161276502 1:161306712-161306712
21 MPZ NM_000530.8(MPZ):c.184A>G (p.Ile62Val)SNV Uncertain significance 875495 1:161277098-161277098 1:161307308-161307308
22 MPZ NM_000530.8(MPZ):c.637G>A (p.Gly213Arg)SNV Uncertain significance 638456 1:161275906-161275906 1:161306116-161306116
23 MPZ NM_000530.8(MPZ):c.*903G>ASNV Uncertain significance 876254 1:161274763-161274763 1:161304973-161304973
24 MPZ NM_000530.8(MPZ):c.*752G>ASNV Uncertain significance 876373 1:161274914-161274914 1:161305124-161305124
25 MPZ NM_000530.8(MPZ):c.*522C>ASNV Uncertain significance 875383 1:161275144-161275144 1:161305354-161305354
26 MPZ NM_000530.8(MPZ):c.*435T>GSNV Uncertain significance 875384 1:161275231-161275231 1:161305441-161305441
27 MPZ NM_000530.8(MPZ):c.*369C>TSNV Uncertain significance 876415 1:161275297-161275297 1:161305507-161305507
28 MPZ NM_000530.8(MPZ):c.*681A>TSNV Uncertain significance 293306 rs886045474 1:161274985-161274985 1:161305195-161305195
29 MPZ NM_000530.8(MPZ):c.*568C>GSNV Benign/Likely benign 293308 rs60731755 1:161275098-161275098 1:161305308-161305308
30 MPZ NM_000530.8(MPZ):c.684C>T (p.Ser228=)SNV Benign/Likely benign 129619 rs34307129 1:161275729-161275729 1:161305939-161305939
31 MPZ NM_000530.8(MPZ):c.504G>A (p.Val168=)SNV Benign/Likely benign 293313 rs145592910 1:161276199-161276199 1:161306409-161306409
32 MPZ NM_000530.8(MPZ):c.*624C>TSNV Benign/Likely benign 293307 rs60821801 1:161275042-161275042 1:161305252-161305252
33 MPZ NM_000530.8(MPZ):c.*761A>GSNV Benign 293304 rs16832786 1:161274905-161274905 1:161305115-161305115
34 MPZ NM_000530.8(MPZ):c.600G>A (p.Gly200=)SNV Benign 138242 rs16832790 1:161275943-161275943 1:161306153-161306153

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Congenital Hypomyelinating, 2:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 MPZ p.Thr124Lys VAR_029978 rs121913595

Expression for Neuropathy, Congenital Hypomyelinating, 2

Search GEO for disease gene expression data for Neuropathy, Congenital Hypomyelinating, 2.

Pathways for Neuropathy, Congenital Hypomyelinating, 2

GO Terms for Neuropathy, Congenital Hypomyelinating, 2

Cellular components related to Neuropathy, Congenital Hypomyelinating, 2 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 8.62 RHO MPZ

Sources for Neuropathy, Congenital Hypomyelinating, 2

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