Entrez gene ID | | 23600 |
Official gene symbol | | AMACR |
Full name | | alpha-methylacyl-CoA racemase |
Aliases | | ,CBAS4,RACE,RM, |
Gene 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. |
Location | | Chromosome: 5 Locus: 5p13 |
Gene position | | 34008220 - 33987091 Map Viewer |
Gene orientation | | minus |
Gene size | | 21130 bp |
Gene sequence |
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OMIM ID | | 604489 |
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