Aliases for AMACR Gene
External Ids for AMACR Gene
Previous GeneCards Identifiers for AMACR Gene
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]
GeneCards Summary for AMACR Gene
AMACR (Alpha-Methylacyl-CoA Racemase) is a Protein Coding gene. Diseases associated with AMACR include Bile Acid Synthesis Defect, Congenital, 4 and Alpha-Methylacyl-Coa Racemase Deficiency. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and alpha-methylacyl-CoA racemase activity. An important paralog of this gene is SUGCT.
UniProtKB/Swiss-Prot for AMACR Gene
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.