Gene Symbol | AMACR |
Entrez Gene ID | 23600 |
Full Name | alpha-methylacyl-CoA racemase |
Synonyms | AMACRD,CBAS4,P504S,RACE,RM |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Alpha-methylacyl-CoA racemase deficiency, 614307 (3); Bile acid synthesis defect, congenital, 4, 214950 (3) |