| Protein Name | alpha-methylacyl-CoA racemase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 23600 |
| Gene Symbol | AMACR |
| UniProt | Q9UHK6 (AMACR_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
74
Total Number of Articles : 100 |
Description |
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] |
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