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]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
AMACR-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
AMACR-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
AMACR-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
AMACR-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
AMACR-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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]
Gene Symbol : AMACR
Gene Name : Alpha-methylacyl-CoA racemase
Chromosome : CHR 5: 340,081,14-339,869,85
Locus : 5p13.2
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