AMACR Antibody

The AMACR gene encodes the racemase Alpha-methylacyl-CoA. 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. [RefSeq]