Alpha-Methylacyl-CoA Racemase

Alternative Names

  • AMACR
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OMIM Number

604489

NCBI Gene ID

23600

Uniprot ID

Q9UHK6

Length

21,886 bases

No. of Exons

5

No. of isoforms

4

Protein Name

Alpha-methylacyl-CoA racemase

Molecular Mass

42387 Da

Amino Acid Count

382

Genomic Location

chr5:33,986,164-34,008,049

Gene Map Locus
5p13.2

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014324.5:c.877T>CUnited Arab EmiratesNC_000005.10:g.33989365A>GLikely PathogenicAlpha-Methylacyl-CoA Racemase DeficiencyNG_016211.1:g.23751T>C; NM_014324.5:c.877T>C; NP_055139.4:p.Cys293Arg
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