AMACR(Alpha-methylacyl-CoA racemase) belongs to the CaiB/BaiF CoA-transferase family. It is a mitochondrial and peroxisomal enzyme that catalyzes the conversion of 2R stereoisomers of phytanic and pristanic acid to their S counterparts. AMACR has previously been shown to be a highly sensitive marker for colorectal and clinically localized prostate cancer (PCa). However,AMACR expression is down-regulated at the transcript and protein level in hormone-refractory metastatic PCa,suggesting a hormone-dependent expression of AMACR. It has 3 isoforms produced by alternative splicing. Defects in AMACR are the cause of alpha-methylacyl-CoA racemase deficiency (AMACRD) and congenital bile acid synthesis defect type 4 (CBAS4).
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.
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