AMACR

Chr 5p13.2

alpha-methylacyl-CoA racemase

Aliases:: RACE, P504S
MANE:: ENST00000335606.11

OMIM: 604489 ↗NCBI: 23600 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

AMACR · Q9UHK6

v62025-08-01

Predicted Aligned Error matrix for AMACR — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.8/ 100

Very high

382 residues

Confidence breakdown

Very high(≥ 90)95%
Confident(70–90)4%
Low(50–70)1%
Very low(< 50)1%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cholestasis
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Peroxisomal disorders
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

alpha-methylacyl-CoA racemase deficiency
0.76
Congenital bile acid synthesis defect type 4
0.73
congenital bile acid synthesis defect 4
0.65
hereditary disease
0.45
retinitis pigmentosa
0.37
hair color
0.35
IgA glomerulonephritis
0.34
mitochondrial complex I deficiency
0.12
spastic ataxia
0.12
prostate carcinoma
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Alpha-methylacyl-CoA racemase

Catalyzes the interconversion of (R)- and (S)-stereoisomers of alpha-methyl-branched-chain fatty acyl-CoA esters (PubMed:10655068, PubMed:11060359, PubMed:7649182). Acts only on coenzyme A thioesters, not on free fatty acids, and accepts as substrates a wide range of alpha-methylacyl-CoAs, including pristanoyl-CoA, trihydroxycoprostanoyl-CoA (an intermediate in bile acid synthesis), and arylpropionic acids like the anti-inflammatory drug ibuprofen (2-(4-isobutylphenyl)propionic acid) but neither 3-methyl-branched nor linear-chain acyl-CoAs (PubMed:10655068, PubMed:11060359, PubMed:7649182)