Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for AMACR (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID23600
Official gene symbolAMACR
Full namealpha-methylacyl-CoA racemase
Aliases,CBAS4,RACE,RM,
Gene summaryThis 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.
LocationChromosome: 5   Locus: 5p13
Gene position34008220 - 33987091  Map Viewer
Gene orientationminus
Gene size21130 bp
Gene sequence
OMIM ID604489