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 Synthesis of bile acids and bile salts and Peroxisome. GO annotations related to this gene include 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.