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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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AMACR
alpha-methylacyl-CoA racemase
Chromosome 5 Β· 5p13.2
NCBI Gene: 23600Ensembl: ENSG00000242110.10HGNC: HGNC:451UniProt: Q9UHK6
133PubMed Papers
22Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
peroxisomealpha-methylacyl-CoA racemase activitybile acid metabolic processmitochondrionAlpha-methylacyl-CoA racemase deficiencyCongenital bile acid synthesis defect type 4congenital bile acid synthesis defect 4genetic disorder
✦AI Summary

AMACR (alpha-methylacyl-CoA racemase) catalyzes the stereoisomeric interconversion of (R)- and (S)-forms of alpha-methyl-branched-chain fatty acyl-CoA esters 1, serving as a key enzyme in branched-chain fatty acid metabolism. The enzyme acts exclusively on coenzyme A thioesters, accepting diverse substrates including pristanoyl-CoA, trihydroxycoprostanoyl-CoA (bile acid synthesis intermediate), and anti-inflammatory drugs like ibuprofen, but excludes 3-methyl-branched or linear-chain acyl-CoAs 1. AMACR localizes to peroxisomes, peroxisomal matrix, mitochondria, and cytosol, participating in fatty acid beta-oxidation and bile acid biosynthesis 2. Clinically, AMACR deficiency represents a peroxisomal disorder causing leukodystrophy and syndromic retinitis pigmentosa with retinal degeneration 32. AMACR is overexpressed in prostate and other cancers, serving as diagnostic marker P504S for urothelial carcinoma in situ 4. Recent evidence links AMACR to intestinal mucosal homeostasis, with decreased expression in ulcerative colitis patients correlating with mitochondrial dysfunction 5. AMACR expression patterns and genetic polymorphisms associate with prostate cancer risk, particularly in relation to branched-chain fatty acid metabolism 67. AMACR inhibitors show potential as novel cancer therapeutics, particularly for castrate-resistant prostate cancers 1.

Sources cited
1
AMACR catalyzes chiral inversion of branched-chain fatty acids and drugs; overexpressed in cancers; mechanism via enolate intermediate
PMID: 23376124
2
AMACR deficiency is a peroxisomal disorder associated with leukodystrophy
PMID: 39322376
3
AMACR deficiency presents as inherited metabolic disorder with syndromic retinitis pigmentosa and retinal degeneration
PMID: 39733931
4
AMACR is upregulated in urothelial carcinoma in situ with high diagnostic sensitivity and specificity
PMID: 37763728
5
AMACR knockdown disrupts mitochondrial structure and function; decreased expression in ulcerative colitis
PMID: 39738583
6
AMACR gene polymorphisms and branched-chain fatty acids link to prostate cancer risk
PMID: 16563090
7
AMACR mRNA is a promising urinary biomarker for prostate cancer detection
PMID: 28524004
Disease Associationsβ“˜22
Alpha-methylacyl-CoA racemase deficiencyOpen Targets
0.76Strong
Congenital bile acid synthesis defect type 4Open Targets
0.73Strong
congenital bile acid synthesis defect 4Open Targets
0.67Moderate
genetic disorderOpen Targets
0.45Moderate
hair colorOpen Targets
0.42Moderate
retinitis pigmentosaOpen Targets
0.37Weak
IGA glomerulonephritisOpen Targets
0.35Weak
mitochondrial complex I deficiencyOpen Targets
0.12Weak
spastic ataxiaOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
prostate cancerOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
carcinomaOpen Targets
0.06Suggestive
gastrointestinal stromal tumorOpen Targets
0.06Suggestive
posterior cortical atrophyOpen Targets
0.06Suggestive
glioblastomaOpen Targets
0.06Suggestive
liver cancerOpen Targets
0.06Suggestive
ulcerative colitisOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
Alpha-methylacyl-CoA racemase deficiencyUniProt
Congenital bile acid synthesis defect 4UniProt
Pathogenic Variants4
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)Pathogenic
Alpha-methylacyl-CoA racemase deficiency|Congenital bile acid synthesis defect 4|not provided|AMACR-related disorder|Inborn genetic diseases|Autosomal recessive AMACR-related disorders
β˜…β˜…β˜†β˜†2026β†’ Residue 52
NM_014324.6(AMACR):c.740-12_740-2delinsTGGACTTGGACTTLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_014324.6(AMACR):c.643_644insC (p.Gly215fs)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 215
NM_014324.6(AMACR):c.320T>C (p.Leu107Pro)Pathogenic
Congenital bile acid synthesis defect 4
β˜†β˜†β˜†β˜†2000β†’ Residue 107
View on ClinVar β†—
Related Genes
SDHBProtein interaction100%HSD3B7Protein interaction100%OR51E2Protein interaction91%SLC45A3Protein interaction89%RFKProtein interaction89%HSDL2Protein interaction86%
Tissue Expression6 tissues
Liver
100%
Brain
32%
Heart
14%
Ovary
12%
Lung
10%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
AMACRSDHBHSD3B7OR51E2SLC45A3RFKHSDL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UHK6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.24LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.83 [0.56–1.24]
RankingsWhere AMACR stands among ~20K protein-coding genes
  • #3,476of 20,598
    Most Researched133 Β· top quartile
  • #3,719of 5,498
    Most Pathogenic Variants4
  • #13,061of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedAMACR
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Syndromic retinitis pigmentosa.
PMID: 39733931
Prog Retin Eye Res Β· 2025
1.00
2
Peroxisomal leukodystrophy.
PMID: 39322376
Handb Clin Neurol Β· 2024
0.90
3
Low-grade oncocytic tumour of kidney (CD117-negative, cytokeratin 7-positive): a distinct entity?
PMID: 30895640
Histopathology Β· 2019
0.80
4
HMGCS2 and AMACR as potential targets linking mitochondrial dysfunction and ulcerative colitis.
PMID: 39738583
Sci Rep Β· 2024
0.70
5
Diagnostic Roles of Immunohistochemical Markers CK20, CD44, AMACR, and p53 in Urothelial Carcinoma In Situ.
PMID: 37763728
Medicina (Kaunas) Β· 2023
0.60