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AMACR / P504S is 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.
Gene Name: | alpha-methylacyl-CoA racemase |
Synonyms: | AMACR, 2-methylacyl-CoA racemase, AMACRD, Alpha-methylacyl-CoA racemase, CBAS4, RACE, RM, AMACR/p504S |
Target Sequences: | NM_014324 NP_055139.4 Q9UHK6 |
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