AMACR

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]

Description

Alpha-methylacyl-CoA racemase

Tissue specificity

Tissue enhanced (kidney, liver)

Subcell location

Vesicles, Plasma membrane

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (33986165 - 34008104)

Ensembl ID

ENSG00000242110  (ver. 103.38)

Orthologs

Mouse Amacr: ENSMUSG00000022244

UniProt

Q9UHK6

neXtProt

NX_Q9UHK6

Human splice variants
Mouse splice variants

Protein structure