NLS2
MCID: NLX003
MIFTS: 47

Neu-Laxova Syndrome 2 (NLS2)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Neu-Laxova Syndrome 2

MalaCards integrated aliases for Neu-Laxova Syndrome 2:

Name: Neu-Laxova Syndrome 2 56 12 73 29 6 15 71
Nls2 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
usually death in utero or rarely in neonatal period


HPO:

31
neu-laxova syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Neu-Laxova Syndrome 2

OMIM : 56 Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014). For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (256520). (616038)

MalaCards based summary : Neu-Laxova Syndrome 2, also known as nls2, is related to autosomal recessive cutis laxa type iii and cutis laxa, autosomal recessive, type iiib, and has symptoms including edema of foot (finding) An important gene associated with Neu-Laxova Syndrome 2 is PSAT1 (Phosphoserine Aminotransferase 1), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation. Affiliated tissues include lung, skin and liver, and related phenotypes are hypertelorism and short neck

Disease Ontology : 12 A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has material basis in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine.

UniProtKB/Swiss-Prot : 73 Neu-Laxova syndrome 2: A form of Neu-Laxova syndrome, a lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies. These include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears.

Related Diseases for Neu-Laxova Syndrome 2

Diseases in the Neu-Laxova Syndrome 1 family:

Neu-Laxova Syndrome 2

Diseases related to Neu-Laxova Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive cutis laxa type iii 10.3 PYCR1 ALDH18A1
2 cutis laxa, autosomal recessive, type iiib 10.3 PYCR1 ALDH18A1
3 cutis laxa, autosomal recessive, type ib 10.3 PYCR1 ALDH18A1
4 cutis laxa, autosomal recessive, type iia 10.3 PYCR1 ALDH18A1
5 cutis laxa, autosomal recessive, type iiia 10.3 PYCR1 ALDH18A1
6 carbonic anhydrase va deficiency, hyperammonemia due to 10.3 NAGS GLUD1
7 spastic paraplegia 9b, autosomal recessive 10.3 PYCR1 ALDH18A1
8 spastic paraplegia 9a, autosomal dominant 10.3 PYCR1 ALDH18A1
9 hawkinsinuria 10.3 TAT OPLAH
10 cutis laxa, autosomal recessive, type ic 10.3 PYCR1 ALDH18A1
11 spinocerebellar degeneration 10.3 GLUD1 GCLC
12 cutis laxa, autosomal recessive, type iib 10.2 PYCR1 ALDH18A1
13 amino acid metabolic disorder 10.2 TAT NAGS ALDH4A1
14 glutathione synthetase deficiency 10.2 OPLAH GLUL
15 hyperprolinemia 10.2 PYCR1 ALDH4A1 ALDH18A1
16 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.2 OAT NAGS ALDH18A1
17 cutis laxa, autosomal recessive, type ia 10.2 PYCR1 ALDH18A1
18 maple syrup urine disease 10.2 NAGS GLUD1 BCAT2
19 hyperprolinemia, type ii 10.2 PYCR1 ALDH4A1
20 hyperprolinemia, type i 10.2 PYCR1 OAT ALDH4A1
21 gamma-amino butyric acid metabolism disorder 10.1 GAD1 ALDH4A1 ALDH18A1
22 succinic semialdehyde dehydrogenase deficiency 10.1 GAD1 ALDH4A1 ALDH18A1
23 monocarboxylate transporter 1 deficiency 10.1 GLUD1 GAD1
24 hyperinsulinemic hypoglycemia, familial, 7 10.0 GLUD1 ABCC8
25 gordon holmes syndrome 9.9 WDTC1 GLUL GLUD1
26 geroderma osteodysplasticum 9.8 PYCR1 ALDH18A1
27 intravascular fasciitis 9.8 GCLC ELN
28 elephantiasis 9.7 GPT2 ELN
29 autosomal recessive cutis laxa type i 9.7 PYCR1 ELN ALDH18A1
30 cutis laxa 9.7 PYCR1 ELN ALDH18A1
31 autosomal recessive cutis laxa type ii classic type 9.7 PYCR1 ELN ALDH18A1
32 liver benign neoplasm 9.7 GOT2 GLUL
33 temporal lobe epilepsy 9.6 GRIK2 GLUL GAD1
34 hyperinsulinemic hypoglycemia, familial, 6 9.6 WDTC1 NAGS GLUD1 ABCC8

Graphical network of the top 20 diseases related to Neu-Laxova Syndrome 2:



Diseases related to Neu-Laxova Syndrome 2

Symptoms & Phenotypes for Neu-Laxova Syndrome 2

Human phenotypes related to Neu-Laxova Syndrome 2:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 short neck 31 HP:0000470
3 scoliosis 31 HP:0002650
4 microcephaly 31 HP:0000252
5 ichthyosis 31 HP:0008064
6 cleft palate 31 HP:0000175
7 intrauterine growth retardation 31 HP:0001511
8 high palate 31 HP:0000218
9 micrognathia 31 HP:0000347
10 low-set ears 31 HP:0000369
11 depressed nasal ridge 31 HP:0000457
12 decreased fetal movement 31 HP:0001558
13 sloping forehead 31 HP:0000340
14 rocker bottom foot 31 HP:0001838
15 abnormality of the pinna 31 HP:0000377

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
absent or abnormal eyelids

Skeletal Spine:
scoliosis

Skin Nails Hair Skin:
ichthyosis
taunt skin

Head And Neck Face:
micrognathia
sloping forehead

Head And Neck Nose:
flat nose
abnormal nose

Growth Other:
intrauterine growth retardation (iugr)

Prenatal Manifestations Movement:
decreased fetal movements

Skeletal Hands:
deformed digits
swollen hands

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
high-arched palate
round, gaping mouth
abnormal mouth

Head And Neck Ears:
low-set ears
malformed ears

Skeletal Feet:
rocker-bottom feet
deformed digits
swollen feet

Muscle Soft Tissue:
subcutaneous edema

Skeletal Limbs:
deformed limbs

Neurologic Central Nervous System:
decreased or absent gyri (in some patients)

Clinical features from OMIM:

616038

UMLS symptoms related to Neu-Laxova Syndrome 2:


edema of foot (finding)

GenomeRNAi Phenotypes related to Neu-Laxova Syndrome 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.4 BCAT2 GLUL
2 Decreased viability GR00381-A-1 9.4 BCAT2 GOT2 OAT
3 Decreased viability GR00386-A-1 9.4 ELN GLS2
4 Decreased viability GR00402-S-2 9.4 ALDH18A1 ELN GLS2 GLUD1 PSAT1

MGI Mouse Phenotypes related to Neu-Laxova Syndrome 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.4 ABCC8 BCAT2 GAD1 GCLC GLUD1 GLUL

Drugs & Therapeutics for Neu-Laxova Syndrome 2

Search Clinical Trials , NIH Clinical Center for Neu-Laxova Syndrome 2

Genetic Tests for Neu-Laxova Syndrome 2

Genetic tests related to Neu-Laxova Syndrome 2:

# Genetic test Affiliating Genes
1 Neu-Laxova Syndrome 2 29 PSAT1

Anatomical Context for Neu-Laxova Syndrome 2

MalaCards organs/tissues related to Neu-Laxova Syndrome 2:

40
Lung, Skin, Liver, Breast, Endothelial

Publications for Neu-Laxova Syndrome 2

Articles related to Neu-Laxova Syndrome 2:

(show top 50) (show all 95)
# Title Authors PMID Year
1
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. 6 56
25152457 2014
2
The Human DNA Mismatch Repair Protein MSH3 Contains Nuclear Localization and Export Signals That Enable Nuclear-Cytosolic Shuttling in Response to Inflammation. 61
32284349 2020
3
Nuclear localization signal in TRIM22 is essential for inhibition of type 2 porcine reproductive and respiratory syndrome virus replication in MARC-145 cells. 61
31375995 2019
4
Identification of epithelial-specific ETS-1 (ESE-1) as a tumor suppressor and molecular target of green tea compound, EGCG. 61
30676667 2019
5
The isolated C-terminal nuclear localization sequence of the breast cancer metastasis suppressor 1 is disordered. 61
30707944 2019
6
Regulation of the Intranuclear Distribution of the Cockayne Syndrome Proteins. 61
30504782 2018
7
Identification of nuclear localization signals in the human homeoprotein MSX1. 61
29156143 2018
8
Structural insights into the nuclear import of the histone acetyltransferase males-absent-on-the-first by importin α1. 61
28991411 2018
9
Ceramide Synthase Schlank Is a Transcriptional Regulator Adapting Gene Expression to Energy Requirements. 61
29386138 2018
10
The role of nuclear NS1 protein in highly pathogenic H5N1 influenza viruses. 61
28903072 2017
11
Synergy of two low-affinity NLSs determines the high avidity of influenza A virus nucleoprotein NP for human importin α isoforms. 61
28900157 2017
12
C-terminal region of apoptin affects chicken anemia virus replication and virulence. 61
28222746 2017
13
Nuclear import of Nkx2-2 is mediated by multiple pathways. 61
27956177 2017
14
Interrogation of a lacrimo-auriculo-dento-digital syndrome protein reveals novel modes of fibroblast growth factor 10 (FGF10) function. 61
27742760 2016
15
Characterization of nucleocytoplasmic shuttling and intracellular localization signals in Duck Enteritis Virus UL54. 61
27157269 2016
16
Characterization of the Inflammatory Properties of Actively Released HMGB1 in Juvenile Idiopathic Arthritis. 61
25532033 2016
17
Identification of nuclear localization signals within the human BCOR protein. 61
26054978 2015
18
Molecular identification and genetic diversity of open reading frame 7 field isolated porcine reproductive and respiratory syndrome in North Sumatera, Indonesia, in the period of 2008-2014. 61
27047168 2015
19
Identification and characterization of nuclear and nucleolar localization signals in 58-kDa microspherule protein (MSP58). 61
25981436 2015
20
Construction of a CRISPR-Cas9 System for Pig Genome Targeting. 61
26158460 2015
21
Evaluation of in vitro properties of predicted kinases that phosphorylate serine residues within nuclear localization signal 1 of high mobility group box 1. 61
24863048 2014
22
High mobility group box-1 (HMGB1) participates in the pathogenesis of alcoholic liver disease (ALD). 61
24928512 2014
23
[Identification of nuclear localization signals of pseudorabies virus gene UL49]. 61
25272600 2014
24
Selective apoptosis induction in MCF-7 cell line by truncated minimal functional region of Apoptin. 61
24144306 2013
25
Nuclear import of aristaless-related homeobox protein via its NLS1 regulates its transcriptional function. 61
23771350 2013
26
S1-1/RBM10: multiplicity and cooperativity of nuclear localisation domains. 61
23294349 2013
27
Identification and characterization of the regions involved in the nuclear translocation of the heterodimeric leishmanial DNA topoisomerase IB. 61
24023887 2013
28
Multiple protein domains contribute to nuclear import and cell toxicity of DUX4, a candidate pathogenic protein for facioscapulohumeral muscular dystrophy. 61
24116060 2013
29
The C-terminal putative nuclear localization sequence of breast cancer metastasis suppressor 1, BRMS1, is necessary for metastasis suppression. 61
23390556 2013
30
In vivo characterization of chimeric PCV DNA clones containing heterogeneous capsid protein nuclear localization signals (NLS). 61
23294939 2013
31
Nuclear import of isoforms of the cytomegalovirus kinase pUL97 is mediated by differential activity of NLS1 and NLS2 both acting through classical importin-α binding. 61
22552943 2012
32
Influenza A H3N2 subtype virus NS1 protein targets into the nucleus and binds primarily via its C-terminal NLS2/NoLS to nucleolin and fibrillarin. 61
22909121 2012
33
Minichromosome maintenance 2 bound with retroviral Gp70 is localized to cytoplasm and enhances DNA-damage-induced apoptosis. 61
22768239 2012
34
Functional exchangeability of the nuclear localization signal (NLS) of capsid protein between PCV1 and PCV2 in vitro: Implications for the role of NLS in viral replication. 61
21733152 2011
35
Characterization of nuclear localization signals in the type III effectors HsvG and HsvB of the gall-forming bacterium Pantoea agglomerans. 61
21372093 2011
36
Identification of two functional nuclear localization signals mediating nuclear import of liver receptor homologue-1. 61
20853131 2011
37
PP2A interaction with Rb2/p130 mediates translocation of Rb2/p130 into the nucleus in all-trans retinoic acid-treated ovarian carcinoma cells. 61
20857408 2011
38
Identification of nuclear localization signals of Drosophila G9a histone H3 methyltransferase. 61
21512259 2011
39
Identification and functional analysis of NOL7 nuclear and nucleolar localization signals. 61
20875127 2010
40
The nuclear import of the constitutive androstane receptor by importin/Ran-GTP systems. 61
20478346 2010
41
Cocksfoot mottle sobemovirus coat protein contains two nuclear localization signals. 61
20155311 2010
42
Nucleocytoplasmic shuttling of p62/SQSTM1 and its role in recruitment of nuclear polyubiquitinated proteins to promyelocytic leukemia bodies. 61
20018885 2010
43
The roles of multiple importins for nuclear import of murine aristaless-related homeobox protein. 61
19494118 2009
44
The directionality of the nuclear transport of the influenza A genome is driven by selective exposure of nuclear localization sequences on nucleoprotein. 61
19490630 2009
45
Identification of direct transcriptional targets of the Kaposi's sarcoma-associated herpesvirus Rta lytic switch protein by conditional nuclear localization. 61
18715905 2008
46
Nuclear and nucleolar localization signals and their targeting function in phosphatidylinositol 4-kinase PI4K230. 61
18585705 2008
47
Nuclear localization sequences in cytomegalovirus capsid assembly proteins (UL80 proteins) are required for virus production: inactivating NLS1, NLS2, or both affects replication to strikingly different extents. 61
18353959 2008
48
Value of apoptin's 40-amino-acid C-terminal fragment for the differentiation between human tumor and non-tumor cells. 61
18311587 2008
49
Nucleolar binding sequences of the ribosomal protein S6e family reside in evolutionary highly conserved peptide clusters. 61
18178970 2008
50
Daxx contains two nuclear localization signals and interacts with importin alpha3. 61
17661348 2008

Variations for Neu-Laxova Syndrome 2

ClinVar genetic disease variations for Neu-Laxova Syndrome 2:

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PSAT1 NM_058179.4(PSAT1):c.178del (p.Val60fs)deletion Pathogenic 578992 rs1564012541 9:80916926-80916926 9:78302010-78302010
2 PSAT1 NM_058179.4(PSAT1):c.420G>A (p.Trp140Ter)SNV Pathogenic 654599 9:80921252-80921252 9:78306336-78306336
3 PSAT1 NM_058179.4(PSAT1):c.1023_1027delinsAGACCT (p.Arg342fs)indel Pathogenic 156362 rs587777776 9:80943912-80943916 9:78328996-78329000
4 PSAT1 NM_058179.4(PSAT1):c.536C>T (p.Ser179Leu)SNV Pathogenic 156363 rs587777777 9:80921368-80921368 9:78306452-78306452
5 PSAT1 NM_058179.4(PSAT1):c.296C>T (p.Ala99Val)SNV Pathogenic 156364 rs587777778 9:80919755-80919755 9:78304839-78304839
6 PSAT1 NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys)SNV Conflicting interpretations of pathogenicity 542039 rs113824905 9:80943013-80943013 9:78328097-78328097
7 PSAT1 NM_058179.4(PSAT1):c.571-4dupduplication Conflicting interpretations of pathogenicity 367457 rs536197677 9:80923321-80923322 9:78308405-78308406
8 PSAT1 NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val)indel Conflicting interpretations of pathogenicity 372478 rs1057517807 9:80919755-80919756 9:78304839-78304840
9 PSAT1 NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg)SNV Uncertain significance 569328 rs1564013551 9:80919854-80919854 9:78304938-78304938
10 PSAT1 NM_058179.4(PSAT1):c.868G>A (p.Val290Ile)SNV Uncertain significance 661070 9:80932719-80932719 9:78317803-78317803
11 PSAT1 NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp)SNV Uncertain significance 849232 9:80916929-80916929 9:78302013-78302013
12 PSAT1 NM_058179.4(PSAT1):c.851A>G (p.Asn284Ser)SNV Uncertain significance 850530 9:80932702-80932702 9:78317786-78317786
13 PSAT1 NM_058179.4(PSAT1):c.1097A>G (p.Glu366Gly)SNV Uncertain significance 848411 9:80943986-80943986 9:78329070-78329070
14 PSAT1 NM_058179.4(PSAT1):c.468G>A (p.Thr156=)SNV Likely benign 728437 9:80921300-80921300 9:78306384-78306384
15 PSAT1 NM_058179.4(PSAT1):c.270C>G (p.Leu90=)SNV Likely benign 764428 9:80919729-80919729 9:78304813-78304813
16 PSAT1 NM_058179.4(PSAT1):c.367A>G (p.Ile123Val)SNV Likely benign 367455 rs116577685 9:80919826-80919826 9:78304910-78304910
17 PSAT1 NM_058179.4(PSAT1):c.393T>C (p.Tyr131=)SNV Likely benign 779257 9:80919852-80919852 9:78304936-78304936
18 PSAT1 NM_058179.4(PSAT1):c.795G>A (p.Ala265=)SNV Likely benign 786392 9:80932646-80932646 9:78317730-78317730
19 PSAT1 NM_058179.4(PSAT1):c.696G>A (p.Val232=)SNV Benign 712336 9:80923455-80923455 9:78308539-78308539
20 PSAT1 NM_058179.4(PSAT1):c.348G>A (p.Lys116=)SNV Benign 542040 rs41277897 9:80919807-80919807 9:78304891-78304891
21 PSAT1 NM_058179.4(PSAT1):c.1059C>T (p.Asp353=)SNV Benign 367461 rs115639310 9:80943948-80943948 9:78329032-78329032

UniProtKB/Swiss-Prot genetic disease variations for Neu-Laxova Syndrome 2:

73
# Symbol AA change Variation ID SNP ID
1 PSAT1 p.Ala99Val VAR_072571 rs587777778
2 PSAT1 p.Ser179Leu VAR_072572 rs587777777

Expression for Neu-Laxova Syndrome 2

Search GEO for disease gene expression data for Neu-Laxova Syndrome 2.

Pathways for Neu-Laxova Syndrome 2

Pathways related to Neu-Laxova Syndrome 2 according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 TAT PYCR1 PSAT1 OPLAH OAT NAGS
2
Show member pathways
13.68 TAT PYCR1 PSAT1 OAT NAGS GPT2
3
Show member pathways
12.82 GRIK2 GLUL GLS2 GAD1 ABCC8
4 12.33 GLUL GLUD1 GAD1 BCAT2
5
Show member pathways
12.23 PYCR1 PSAT1 NAGS GPT2 GOT2 GLUL
6
Show member pathways
11.97 TAT PSAT1 GOT2 GCLC BCAT2
7
Show member pathways
11.81 TAT GOT2 ALDH4A1
8 11.72 TAT PYCR1 OAT GPT2 GOT2 GLUL
9
Show member pathways
11.61 PYCR1 OAT GOT2 ALDH4A1 ALDH18A1
10
Show member pathways
11.21 NAGS GPT2 GOT2 GLUL GLUD1 GLS2
11
Show member pathways
11.15 PYCR1 OAT NAGS GLUD1 ALDH18A1
12 11.06 GPT2 GOT2 GLUL GLUD1 GLS2 GAD1
13 10.92 GLUD1 GLS2
14
Show member pathways
10.9 PYCR1 PSAT1 OAT GPT2 GOT2 GLUL
15
Show member pathways
10.67 OAT GLUL ALDH18A1
16
Show member pathways
10.64 GOT2 GAD1
17
Show member pathways
10.36 GLUD1 GLS2

GO Terms for Neu-Laxova Syndrome 2

Cellular components related to Neu-Laxova Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.77 TAT PYCR1 OAT NAGS GOT2 GLUL
2 mitochondrial matrix GO:0005759 9.28 PYCR1 OAT NAGS GPT2 GOT2 GLUD1

Biological processes related to Neu-Laxova Syndrome 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 biosynthetic process GO:0009058 9.58 TAT GPT2 GOT2
2 cellular amino acid metabolic process GO:0006520 9.56 TAT GOT2 GLUD1 GLS2
3 2-oxoglutarate metabolic process GO:0006103 9.54 TAT GPT2 GOT2
4 glutamine metabolic process GO:0006541 9.52 GLUD1 GLS2
5 glutathione biosynthetic process GO:0006750 9.51 OPLAH GCLC
6 L-proline biosynthetic process GO:0055129 9.5 PYCR1 OAT ALDH18A1
7 glyoxylate metabolic process GO:0046487 9.49 GOT2 ALDH4A1
8 proline biosynthetic process GO:0006561 9.48 PYCR1 ALDH18A1
9 glutamate biosynthetic process GO:0006537 9.46 GLUD1 GLS2
10 4-hydroxyproline catabolic process GO:0019470 9.43 GOT2 ALDH4A1
11 glutamate metabolic process GO:0006536 9.43 TAT NAGS GOT2 GLUL GCLC ALDH18A1
12 glutamate catabolic process GO:0006538 9.33 GLUL GLUD1 GAD1
13 cellular amino acid biosynthetic process GO:0008652 9.32 PYCR1 PSAT1 OAT GPT2 GOT2 GLUL

Molecular functions related to Neu-Laxova Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.02 TAT PSAT1 OAT NAGS GPT2 GOT2
2 identical protein binding GO:0042802 9.97 TAT PYCR1 OAT GRIK2 GOT2 GLUL
3 catalytic activity GO:0003824 9.7 TAT PSAT1 OPLAH OAT GPT2 GOT2
4 pyridoxal phosphate binding GO:0030170 9.63 TAT PSAT1 OAT GPT2 GOT2 GAD1
5 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 9.43 ALDH4A1 ALDH18A1
6 glutamate binding GO:0016595 9.43 GLUL GCLC GAD1
7 amino acid binding GO:0016597 9.4 TAT GOT2
8 transaminase activity GO:0008483 9.1 TAT PSAT1 OAT GPT2 GOT2 BCAT2

Sources for Neu-Laxova Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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