AMACR alpha-methylacyl-CoA racemase
Gene ID: 23600, updated on 5-Mar-2024Gene type: protein coding
Also known as: RM; RACE; CBAS4; P504S; AMACRD
- See all available tests in GTR for this gene
- Go to complete Gene record for AMACR
- Go to Variation Viewer for AMACR variants
Summary
This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
Associated conditions
Genomic context
- Location:
- 5p13.2
- Sequence:
- Chromosome: 5; NC_000005.10 (33986165..34008050, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AMACR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AMACR database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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