AMACRD
Chr 5ARalpha-methylacyl-CoA racemase
Also known as: AMACRD, CBAS4, P504S, RACE, RM
The protein functions as a racemase that interconverts pristanoyl-CoA and C27-bile acyl-CoAs between their stereoisomers, enabling degradation of these substrates through peroxisomal beta-oxidation. Mutations cause alpha-methylacyl-CoA racemase deficiency, an autosomal recessive disorder presenting with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/AMACRD?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AMACRD · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No open access results found
External Resources
Links to major genomics databases and tools