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MT000176

UniProt Annotations

Entry Information

Gene Name	dihydrolipoamide branched chain transacylase E2
Protein Entry	ODB2_HUMAN
UniProt ID	P11182
Species	Human

Comments

Comment type	Description
Catalytic Activity	2-methylpropanoyl-CoA + enzyme N(6)- (dihydrolipoyl)lysine = CoA + enzyme N(6)-(S-(2- methylpropanoyl)dihydrolipoyl)lysine.
Cofactor	Name=(R)-lipoate; Xref=ChEBI:CHEBI:83088; Note=Binds 1 lipoyl cofactor covalently.;
Disease	Maple 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.
Function	The 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 Caution	Sequence=AAA35589.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAA64512.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Similarity	Belongs to the 2-oxoacid dehydrogenase family. {ECO:0000305}.
Similarity	Contains 1 lipoyl-binding domain. {ECO:0000255\|PROSITE-ProRule:PRU01066, ECO:0000305}.
Subcellular Location	Mitochondrion matrix.
Subunit	Forms a 24-polypeptide structural core with octahedral symmetry.