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Description for Protein AMACR

alpha-methylacyl-CoA racemase
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
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. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
5.1.99.4
KEGG - Orthology:
K01796
KEGG - Pathway(s):
hsa00120; hsa01100; hsa04146
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
2 methylacyl CoA racemase; Alpha methylacyl CoA racemase isoform 2; Alpha-methylacyl-CoA racemase isoform 1
Approved Symbol:
AMACR
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Alpha-methylacyl-CoA racemase deficiency(Pd);
  • Bile acid synthesis defect, congenital, 4(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05134 Entrez Gene ID: 23600 OMIM ID: 604489 Swissprot Accession: Q9UHK6;