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Description for Protein BCKDHB

branched chain keto acid dehydrogenase E1, beta polypeptide
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3' non-coding regions, but encoding the same isoform. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.2.4.4
    KEGG - Orthology:
    K00167
    KEGG - Pathway(s):
    hsa00280; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Alpha keto acid dehydrogenase complex; E1B; 2-oxoisovalerate dehydrogenase beta subunit, mitochondrial; Branched chain alpha keto acid dehydrogenase component, beta chain (E1); BCKDH E1-beta; 3-methyl-2-oxobutanoate dehydrogenase E1 beta chain; Branched chain alpha ketoacid dehydrogenase E1 beta subunit; EC 1.2.4.4
    Approved Symbol:
    BCKDHB
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; 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:

  • Maple syrup urine disease, classic, type IB(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02011 Entrez Gene ID: 594 OMIM ID: 248611 Swissprot Accession: P21953; Q9BQL0;