Full name: alpha-methylacyl-CoA racemase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: AMACRD; CBAS4; P504S; RACE; RM

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]

Expression: Broad expression in kidney (RPKM 38.3), liver (RPKM 31.1) and 22 other tissues

Gene size: 21886bp

Exon count: 5