MitoProteome Database

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MT000075

UniProt Annotations

Entry Information

Gene Name	branched chain keto acid dehydrogenase E1, beta polypeptide
Protein Entry	ODBB_HUMAN
UniProt ID	P21953
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P21953-1; Sequence=Displayed; Name=2; IsoId=P21953-2; Sequence=VSP_056370, VSP_056371; Note=No experimental confirmation available.;
Catalytic Activity	3-methyl-2-oxobutanoate + [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] lipoyllysine = [dihydrolipoyllysine-residue (2- methylpropanoyl)transferase] S-(2- methylpropanoyl)dihydrolipoyllysine + CO(2).
Disease	Maple syrup urine disease 1B (MSUD1B) [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:11509994, ECO:0000269\|PubMed:22326532, ECO:0000269\|PubMed:8161368}. 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).
Interaction	P12694:BCKDHA; NbExp=14; IntAct=EBI-1029067, EBI-1029053;
Subcellular Location	Mitochondrion matrix.
Subunit	Heterotetramer of 2 alpha and 2 beta chains.