AMACRD
MCID: ALP012
MIFTS: 48

Alpha-Methylacyl-Coa Racemase Deficiency (AMACRD)

Categories: Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alpha-Methylacyl-Coa Racemase Deficiency

MalaCards integrated aliases for Alpha-Methylacyl-Coa Racemase Deficiency:

Name: Alpha-Methylacyl-Coa Racemase Deficiency 56 12 25 73 36 29 13 6 15 39 17 71
Amacr Deficiency 56 12 25 73
Amacrd 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset usually in second decade
acute encephalopathic episodes may occur


HPO:

31
alpha-methylacyl-coa racemase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Alpha-Methylacyl-Coa Racemase Deficiency

Genetics Home Reference : 25 Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a variety of neurological problems that begin in adulthood and slowly get worse. People with AMACR deficiency may have a gradual loss in intellectual functioning (cognitive decline), seizures, and migraines. They may also have acute episodes of brain dysfunction (encephalopathy) similar to stroke, involving altered consciousness and areas of damage (lesions) in the brain. Other features of AMACR deficiency may include weakness and loss of sensation in the limbs due to nerve damage (sensorimotor neuropathy), muscle stiffness (spasticity), and difficulty coordinating movements (ataxia). Vision problems caused by deterioration of the light-sensitive layer at the back of the eye (the retina) can also occur in this disorder.

MalaCards based summary : Alpha-Methylacyl-Coa Racemase Deficiency, also known as amacr deficiency, is related to bile acid synthesis defect, congenital, 4 and zellweger syndrome, and has symptoms including seizures and muscle spasticity. An important gene associated with Alpha-Methylacyl-Coa Racemase Deficiency is AMACR (Alpha-Methylacyl-CoA Racemase), and among its related pathways/superpathways are Peroxisome and Primary bile acid biosynthesis. The drugs Fludarabine and Celecoxib have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and retina, and related phenotypes are pigmentary retinopathy and ataxia

Disease Ontology : 12 A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has material basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.

OMIM : 56 AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by Smith et al., 2010). (614307)

KEGG : 36 Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Homozygous mutation in the AMACR gene has been described. AMACR deficiency results in accumulation of the R- isomers of pristanic acid as well as a bile acid deficiency.

UniProtKB/Swiss-Prot : 73 Alpha-methylacyl-CoA racemase deficiency: A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging.

Wikipedia : 74 Alpha-methylacyl-CoA racemase (AMACR) is an enzyme that in humans is encoded by the AMACR gene. AMACR... more...

Related Diseases for Alpha-Methylacyl-Coa Racemase Deficiency

Graphical network of the top 20 diseases related to Alpha-Methylacyl-Coa Racemase Deficiency:



Diseases related to Alpha-Methylacyl-Coa Racemase Deficiency

Symptoms & Phenotypes for Alpha-Methylacyl-Coa Racemase Deficiency

Human phenotypes related to Alpha-Methylacyl-Coa Racemase Deficiency:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 pigmentary retinopathy 31 frequent (33%) HP:0000580
2 ataxia 31 occasional (7.5%) HP:0001251
3 tremor 31 occasional (7.5%) HP:0001337
4 depressivity 31 HP:0000716
5 spasticity 31 HP:0001257
6 dysarthria 31 HP:0001260
7 visual impairment 31 HP:0000505
8 migraine 31 HP:0002076
9 hypergonadotropic hypogonadism 31 HP:0000815
10 status epilepticus 31 HP:0002133
11 sensorimotor neuropathy 31 HP:0007141

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
migraine
status epilepticus
cerebellar ataxia (1 patient)
more
Neurologic Peripheral Nervous System:
sensorimotor neuropathy

Abdomen Liver:
no liver disease

Laboratory Abnormalities:
increased serum pristanic acid
normal or increased serum phytanic acid
increased serum c26-bile-acid intermediates

Head And Neck Eyes:
visual impairment
pigmentary retinopathy (variable)

Neurologic Behavioral Psychiatric Manifestations:
depression

Endocrine Features:
primary hypogonadism (in 2 male patients)

Clinical features from OMIM:

614307

UMLS symptoms related to Alpha-Methylacyl-Coa Racemase Deficiency:


seizures, muscle spasticity

Drugs & Therapeutics for Alpha-Methylacyl-Coa Racemase Deficiency

Drugs for Alpha-Methylacyl-Coa Racemase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
2
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
3
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
4
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
5
alemtuzumab Approved, Investigational Phase 2 216503-57-0
6
rituximab Approved Phase 2 174722-31-7 10201696
7
Busulfan Approved, Investigational Phase 2 55-98-1 2478
8
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10 Tocotrienol Investigational Phase 2 6829-55-6
11 Alkylating Agents Phase 2
12 Immunologic Factors Phase 2
13 Alpha-lipoic Acid Phase 2
14 Vitamins Phase 2
15 N-monoacetylcystine Phase 2
16 Antilymphocyte Serum Phase 2
17 Tocotrienols Phase 2
18 Tocopherols Phase 2
19 Antimetabolites Phase 2
20 Immunosuppressive Agents Phase 2
21 Thioctic Acid Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)

Search NIH Clinical Center for Alpha-Methylacyl-Coa Racemase Deficiency

Genetic Tests for Alpha-Methylacyl-Coa Racemase Deficiency

Genetic tests related to Alpha-Methylacyl-Coa Racemase Deficiency:

# Genetic test Affiliating Genes
1 Alpha-Methylacyl-Coa Racemase Deficiency 29 AMACR

Anatomical Context for Alpha-Methylacyl-Coa Racemase Deficiency

MalaCards organs/tissues related to Alpha-Methylacyl-Coa Racemase Deficiency:

40
Brain, Eye, Retina, Liver

Publications for Alpha-Methylacyl-Coa Racemase Deficiency

Articles related to Alpha-Methylacyl-Coa Racemase Deficiency:

(show all 23)
# Title Authors PMID Year
1
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. 61 56 6
20821052 2010
2
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency. 56 6 61
18032455 2008
3
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency. 61 6 56
15249642 2004
4
AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. 56 6
21576695 2011
5
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. 6 56
10655068 2000
6
Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. 6
12512044 2003
7
A new defect of peroxisomal function involving pristanic acid: a case report. 56
11861706 2002
8
Phytol is lethal for Amacr-deficient mice. 61
26248199 2015
9
Metabolic adaptation allows Amacr-deficient mice to remain symptom-free despite low levels of mature bile acids. 61
23680781 2013
10
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. 61
23286897 2013
11
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4. 61
22987308 2012
12
Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency. 61
20921516 2010
13
The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes. 61
19703563 2009
14
Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency. 61
21686617 2009
15
Mechanisms of disease: Inborn errors of bile acid synthesis. 61
18577977 2008
16
Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review. 61
17956237 2007
17
A mouse model for alpha-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids. 61
15016763 2004
18
Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein. 61
11992265 2002
19
Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. 61
11948235 2002
20
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders. 61
11893780 2002
21
Clinical consequences of defects in peroxisomal beta-oxidation. 61
11356171 2001
22
Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency. 61
11160375 2001
23
Subcellular localization and physiological role of alpha-methylacyl-CoA racemase. 61
11060359 2000

Variations for Alpha-Methylacyl-Coa Racemase Deficiency

ClinVar genetic disease variations for Alpha-Methylacyl-Coa Racemase Deficiency:

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AMACR NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)SNV Pathogenic 5523 rs121917814 5:34007971-34007971 5:34007866-34007866
2 AMACR NM_014324.6(AMACR):c.844G>C (p.Glu282Gln)SNV Conflicting interpretations of pathogenicity 210135 rs181341030 5:33989503-33989503 5:33989398-33989398
3 AMACR NM_014324.6(AMACR):c.554T>C (p.Val185Ala)SNV Conflicting interpretations of pathogenicity 235439 rs145786819 5:33998931-33998931 5:33998826-33998826
4 AMACR NM_014324.6(AMACR):c.*2088A>TSNV Uncertain significance 353222 rs182361997 5:33987110-33987110 5:33987005-33987005
5 AMACR NM_014324.6(AMACR):c.*573dupduplication Uncertain significance 353246 rs886060528 5:33988625-33988625 5:33988520-33988520
6 AMACR NM_014324.6(AMACR):c.48G>A (p.Pro16=)SNV Uncertain significance 353256 rs144271819 5:34008077-34008077 5:34007972-34007972
7 AMACR NM_014324.6(AMACR):c.*2044C>ASNV Uncertain significance 353223 rs529140346 5:33987154-33987154 5:33987049-33987049
8 AMACR NM_014324.6(AMACR):c.*1853G>ASNV Uncertain significance 353227 rs886060522 5:33987345-33987345 5:33987240-33987240
9 AMACR NM_014324.6(AMACR):c.*1560G>ASNV Uncertain significance 353232 rs886060524 5:33987638-33987638 5:33987533-33987533
10 AMACR NM_014324.6(AMACR):c.*1367T>CSNV Uncertain significance 353233 rs752473789 5:33987831-33987831 5:33987726-33987726
11 AMACR NM_014324.6(AMACR):c.*1353G>ASNV Uncertain significance 353234 rs886060525 5:33987845-33987845 5:33987740-33987740
12 AMACR NM_014324.6(AMACR):c.*449T>CSNV Uncertain significance 353248 rs550502356 5:33988749-33988749 5:33988644-33988644
13 AMACR NM_014324.6(AMACR):c.740-5C>GSNV Uncertain significance 353253 rs770927461 5:33989612-33989612 5:33989507-33989507
14 AMACR NM_014324.5(AMACR):c.-40G>ASNV Uncertain significance 353257 rs553007226 5:34008164-34008164 5:34008059-34008059
15 AMACR NM_014324.5(AMACR):c.-70G>ASNV Uncertain significance 353258 rs563347179 5:34008194-34008194 5:34008089-34008089
16 AMACR NM_014324.6(AMACR):c.*2093A>GSNV Uncertain significance 353221 rs886060521 5:33987105-33987105 5:33987000-33987000
17 AMACR NM_014324.6(AMACR):c.*1942C>TSNV Uncertain significance 353226 rs543725887 5:33987256-33987256 5:33987151-33987151
18 AMACR NM_014324.6(AMACR):c.*1643T>CSNV Uncertain significance 353230 rs537161888 5:33987555-33987555 5:33987450-33987450
19 AMACR NM_014324.6(AMACR):c.*1178G>ASNV Uncertain significance 353236 rs886060527 5:33988020-33988020 5:33987915-33987915
20 AMACR NM_014324.6(AMACR):c.*714T>CSNV Uncertain significance 353243 rs143877467 5:33988484-33988484 5:33988379-33988379
21 AMACR NM_014324.6(AMACR):c.*233T>CSNV Uncertain significance 353249 rs557294515 5:33988965-33988965 5:33988860-33988860
22 AMACR NM_014324.6(AMACR):c.889G>A (p.Val297Ile)SNV Uncertain significance 353252 rs886060530 5:33989458-33989458 5:33989353-33989353
23 AMACR NM_014324.6(AMACR):c.937G>A (p.Gly313Ser)SNV Uncertain significance 353251 rs886060529 5:33989410-33989410 5:33989305-33989305
24 AMACR NM_014324.6(AMACR):c.*540T>CSNV Uncertain significance 353247 rs146385238 5:33988658-33988658 5:33988553-33988553
25 AMACR NM_014324.6(AMACR):c.783G>A (p.Met261Ile)SNV Uncertain significance 502794 rs9282593 5:33989564-33989564 5:33989459-33989459
26 AMACR NM_014324.6(AMACR):c.123C>G (p.Tyr41Ter)SNV Uncertain significance 632461 rs1561047456 5:34008002-34008002 5:34007897-34007897
27 AMACR NM_014324.6(AMACR):c.*1181G>ASNV Uncertain significance 353235 rs886060526 5:33988017-33988017 5:33987912-33987912
28 AMACR NM_014324.6(AMACR):c.*1622T>CSNV Uncertain significance 353231 rs886060523 5:33987576-33987576 5:33987471-33987471
29 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.*617G>TSNV Likely benign 353245 rs12659370 5:33988581-33988581 5:33988476-33988476
30 AMACR NM_014324.6(AMACR):c.*976G>ASNV Likely benign 353240 rs150664086 5:33988222-33988222 5:33988117-33988117
31 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.*982C>TSNV Likely benign 353239 rs16892066 5:33988216-33988216 5:33988111-33988111
32 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.*1144A>GSNV Likely benign 353237 rs840380 5:33988054-33988054 5:33987949-33987949
33 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.*963C>TSNV Likely benign 353241 rs6898962 5:33988235-33988235 5:33988130-33988130
34 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.*1961G>ASNV Likely benign 353224 rs113746028 5:33987237-33987237 5:33987132-33987132
35 AMACR NM_014324.6(AMACR):c.*1804G>TSNV Likely benign 353228 rs116206502 5:33987394-33987394 5:33987289-33987289
36 AMACR NM_014324.6(AMACR):c.*1727G>TSNV Likely benign 353229 rs116333833 5:33987471-33987471 5:33987366-33987366
37 AMACR NM_014324.6(AMACR):c.*1945A>GSNV Likely benign 353225 rs79880451 5:33987253-33987253 5:33987148-33987148
38 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.*1070C>TSNV Likely benign 353238 rs16892064 5:33988128-33988128 5:33988023-33988023
39 AMACR NM_014324.6(AMACR):c.*753T>GSNV Benign/Likely benign 353242 rs140021599 5:33988445-33988445 5:33988340-33988340
40 AMACR NM_014324.6(AMACR):c.782T>C (p.Met261Thr)SNV Benign/Likely benign 235412 rs3195678 5:33989565-33989565 5:33989460-33989460
41 AMACR , C1QTNF3-AMACR NM_014324.6(AMACR):c.717G>T (p.Gln239His)SNV Benign/Likely benign 128359 rs34677 5:33998768-33998768 5:33998663-33998663
42 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.*227T>GSNV Benign/Likely benign 353250 rs6863560 5:33988971-33988971 5:33988866-33988866
43 AMACR NM_014324.6(AMACR):c.712C>T (p.Pro238Ser)SNV Benign/Likely benign 353254 rs9282594 5:33998773-33998773 5:33998668-33998668
44 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.*663G>ASNV Benign/Likely benign 353244 rs15612 5:33988535-33988535 5:33988430-33988430
45 AMACR NM_014324.6(AMACR):c.353G>A (p.Arg118Gln)SNV Benign/Likely benign 353255 rs16892150 5:34005899-34005899 5:34005794-34005794
46 AMACR , C1QTNF3-AMACR , SLC45A2 NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)SNV Benign 128360 rs2278008 5:33989518-33989518 5:33989413-33989413
47 AMACR NM_014324.6(AMACR):c.25G>A (p.Val9Met)SNV Benign 128356 rs3195676 5:34008100-34008100 5:34007995-34007995
48 AMACR NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)SNV Benign 128357 rs10941112 5:34004707-34004707 5:34004602-34004602
49 AMACR NM_014324.6(AMACR):c.602T>C (p.Leu201Ser)SNV Benign 128358 rs2287939 5:33998883-33998883 5:33998778-33998778

UniProtKB/Swiss-Prot genetic disease variations for Alpha-Methylacyl-Coa Racemase Deficiency:

73
# Symbol AA change Variation ID SNP ID
1 AMACR p.Ser52Pro VAR_010661 rs121917814

Expression for Alpha-Methylacyl-Coa Racemase Deficiency

Search GEO for disease gene expression data for Alpha-Methylacyl-Coa Racemase Deficiency.

Pathways for Alpha-Methylacyl-Coa Racemase Deficiency

Pathways related to Alpha-Methylacyl-Coa Racemase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Peroxisome hsa04146
2 Primary bile acid biosynthesis hsa00120

Pathways related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.22 SCP2 HSD17B4 ACOX3 ACOX1 ACAA1
2
Show member pathways
11.85 SCP2 HSD17B4 AMACR
3
Show member pathways
11.65 ACOX3 ACOX1 ACAA1
4
Show member pathways
11.54 SCP2 HSD17B4 ACOX3 ACOX1 ACAA1
5 11.5 SCP2 ACOX3 ACOX1 ACAA1
6
Show member pathways
11.28 SCP2 HSD17B4 ACOX1 ACAA1
7 11.2 SCP2 PXMP4 PEX6 PEX26 HSD17B4 AMACR
8
Show member pathways
11.16 SCP2 HSD17B4 AMACR ACOX3 ACOX1 ACAA1
9 11.03 ACOX3 ACOX1
10
Show member pathways
11.01 ACOX3 ACOX1
11 10.87 SCP2 ACAA1

GO Terms for Alpha-Methylacyl-Coa Racemase Deficiency

Cellular components related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.56 SCP2 AMACR ACOX1 ACAA1
2 peroxisomal membrane GO:0005778 9.55 PXMP4 PEX6 PEX26 HSD17B4 ACOX1
3 peroxisomal matrix GO:0005782 9.43 SCP2 HSD17B4 AMACR ACOX3 ACOX1 ACAA1
4 peroxisome GO:0005777 9.28 SCP2 PXMP4 PEX6 PEX26 HSD17B4 AMACR

Biological processes related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.8 HSD17B4 ACOX3 ACOX1 ACAA1
2 fatty acid metabolic process GO:0006631 9.72 HSD17B4 AMACR ACOX3 ACOX1 ACAA1
3 bile acid biosynthetic process GO:0006699 9.58 SCP2 HSD17B4 AMACR
4 fatty acid beta-oxidation GO:0006635 9.56 HSD17B4 ACOX3 ACOX1 ACAA1
5 very long-chain fatty acid metabolic process GO:0000038 9.54 HSD17B4 ACOX1 ACAA1
6 lipid homeostasis GO:0055088 9.51 ACOX3 ACOX1
7 peroxisome organization GO:0007031 9.48 SCP2 PEX6
8 bile acid metabolic process GO:0008206 9.46 AMACR ACAA1
9 alpha-linolenic acid metabolic process GO:0036109 9.46 SCP2 HSD17B4 ACOX1 ACAA1
10 protein import into peroxisome matrix GO:0016558 9.43 PEX6 PEX26
11 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.43 SCP2 HSD17B4 AMACR ACOX3 ACOX1 ACAA1
12 protein targeting to peroxisome GO:0006625 9.23 SCP2 PEX6 PEX26 HSD17B4 AMACR ACOX3

Molecular functions related to Alpha-Methylacyl-Coa Racemase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 9.4 ACOX3 ACOX1
2 FAD binding GO:0071949 9.37 ACOX3 ACOX1
3 fatty acid binding GO:0005504 9.32 ACOX3 ACOX1
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 ACOX3 ACOX1
5 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.16 SCP2 ACAA1
6 acyl-CoA oxidase activity GO:0003997 8.96 ACOX3 ACOX1
7 palmitoyl-CoA oxidase activity GO:0016401 8.62 ACOX1 ACAA1

Sources for Alpha-Methylacyl-Coa Racemase Deficiency

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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