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Description for Protein BCKDHA

branched chain keto acid dehydrogenase E1, alpha polypeptide
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/2)
(phosphoproteome: 1; platelet: 1; undefined: 1)
Summary:
The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.2.4.4
    KEGG - Orthology:
    K00166
    KEGG - Pathway(s):
    hsa00280; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    BCKD, E1 alpha subunit; BCKDE1A; BCKDH; BCKAD; 2 oxoisovalerate dehydrogenase alpha subunit, mitochondrial; BCKDH E1 alpha; MSUD1
    Approved Symbol:
    BCKDHA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 7
    Human (de-) phosphorylation sites: 7; Platelet phosphorylation sites: 1
    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:

  • Maple syrup urine disease, classic, type IA(Pd);
  • Maple syrup urine disease, intermediate, type IA(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02009 Entrez Gene ID: 593 OMIM ID: 608348 Swissprot Accession: P12694; Q59EI3; B4DP47;