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Gene : AMACR Homo sapiens

Name  ? alpha-methylacyl-CoA racemase Cytological Location  5p13.2
Brief Description  alpha-methylacyl-CoA racemase
description  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]
  • synonyms:
  • AMACR,
  • NM_014324,
  • P504S,
  • uc003jig.4,
  • AMACRD,
  • HGNC:451,
  • RACE,
  • RM,
  • OTTHUMG00000090734,
  • AF047020,
  • CBAS4,
  • P504S,
  • RACE
  • identifiers:
  • 23600,
  • ENSG00000242110,
  • AMACR

Genome feature

Region: gene ? Length: 21130  
Location: 5:33986986-34008115 reverse strand Cyto location: 5p13.2


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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Expression

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2011 SN Ps

5 Cross References

18 Data Sets

0 Homologues

0 Located Features

90 Rna Seq Results