A synthesized peptide derived from human AMACR, corresponding to a region within the internal amino acids.
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.
Alpha-methylacyl-CoA racemase (AMACR), also known as P504S, is a mitochondrial and peroxisome enzyme. AMACR is expressed in normal liver (hepatocyte), kidney (tubular epithelial cell) and gallbladder (epithelial cell). AMACR is also expressed in Lung (bronchial epithelial cells) and colon (surface epithelium of colon). AMACR is a specific marker of prostate cancer.
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