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MGP000792

UniProt Annotations

Entry Information
Gene Namedihydrolipoamide branched chain transacylase E2
Protein EntryODB2_HUMAN
UniProt IDP11182
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity2-methylpropanoyl-CoA + enzyme N(6)- (dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-(2- methylpropanoyl)dihydrolipoyl)lysine.
CofactorName=(R)-lipoate; Xref=ChEBI:CHEBI:83088; Note=Binds 1 lipoyl cofactor covalently.;
DiseaseMaple syrup urine disease 2 (MSUD2) [MIM:248600]: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. {ECO:0000269|PubMed:1847055, ECO:0000269|PubMed:9621512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=Patients with primary biliary cirrhosis (PBC) show autoantibodies against the E2 component of branched-chain alpha- keto acid dehydrogenase complex. PBC is a chronic, progressive cholestatic liver disease characterized by the presence of antimitochondrial autoantibodies in patients serum. It manifests with inflammatory obliteration of intra-hepatic bile duct, leading to liver cell damage and cirrhosis. {ECO:0000269|PubMed:2908870, ECO:0000269|PubMed:7543435, ECO:0000269|PubMed:9141421}.
FunctionThe branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component.
Sequence CautionSequence=AAA35589.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAA64512.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the 2-oxoacid dehydrogenase family. {ECO:0000305}.
SimilarityContains 1 lipoyl-binding domain. {ECO:0000255|PROSITE-ProRule:PRU01066, ECO:0000305}.
Subcellular LocationMitochondrion matrix.
SubunitForms a 24-polypeptide structural core with octahedral symmetry.
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