| Gene Symbol |
AMACR
|
| Gene Synonyms |
AMACRD CBAS4 Macr1 P504S RACE RM |
| Gene Full Name |
alpha-methylacyl-CoA racemase |
| Gene 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] |
| Alternative Names |
2-arylpropionyl-CoA epimerase 2-methylacyl-CoA racemase alpha-methylacyl-Coenzyme A racemase AMACR AMACRIADEL amcr OTTHUMP00000219978 OTTHUMP00000219979 |
| Molecular Weight(MW) |
42kDa |
| Cellular Localization |
Mitochondrion,Peroxisome |