| ncRNA Symbol: | AMACR |
| Full Name: | alpha-methylacyl-CoA racemase |
| Category: | mRNA |
| Synonyms: | AMACRD|CBAS4|P504S|RACE|RM |
| Chromosome: | chr5 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 33986178 | End Site(bp): | 34008108 | |
| 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] |
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