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.
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Protein Aliases: 2-methylacyl-CoA racemase; Alpha-methylacyl-CoA racemase; AMACRD; CBAS4; RM
Gene Aliases: AMACR; AMACRD; CBAS4; RACE; RM
UniProt ID: (Human) Q9UHK6
Entrez Gene ID: (Human) 23600