AMACR Antibody – Rabbit Polyclonal

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]

AMACR: Racemization of 2-methyl-branched fatty acid CoA esters. Responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers. Belongs to the CaiB/BaiF CoA-transferase family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Lipid Metabolism - primary bile acid biosynthesis; Mitochondrial; EC 5.1.99.4; Isomerase

Chromosomal Location of Human Ortholog: 5p13

Cellular Component: peroxisomal matrix; mitochondrion; cytoplasm; peroxisome

Molecular Function: receptor binding; alpha-methylacyl-CoA racemase activity

Biological Process: bile acid biosynthetic process; fatty acid beta-oxidation using acyl-CoA oxidase; bile acid metabolic process; cellular lipid metabolic process

Disease: Bile Acid Synthesis Defect, Congenital, 4; Alpha-methylacyl-coa Racemase Deficiency