MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT000186

UniProt Annotations

Entry Information

Gene Name	dihydrolipoamide dehydrogenase
Protein Entry	DLDH_HUMAN
UniProt ID	P09622
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P09622-1; Sequence=Displayed; Name=2; IsoId=P09622-2; Sequence=VSP_055855; Note=No experimental confirmation available.; Name=3; IsoId=P09622-3; Sequence=VSP_055856; Note=No experimental confirmation available.;
Catalytic Activity	Protein N(6)-(dihydrolipoyl)lysine + NAD(+) = protein N(6)-(lipoyl)lysine + NADH.
Cofactor	Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000250}; Note=Binds 1 FAD per subunit. {ECO:0000250};
Disease	Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]: An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. {ECO:0000269\|PubMed:8506365, ECO:0000269\|PubMed:8968745, ECO:0000269\|PubMed:9934985}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Lipoamide dehydrogenase is a component of the glycine cleavage system as well as of the alpha-ketoacid dehydrogenase complexes. Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction.
Miscellaneous	The active site is a redox-active disulfide bond.
Ptm	Tyrosine phosphorylated. {ECO:0000250}.
Sequence Caution	Sequence=BAD92940.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Similarity	Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. {ECO:0000305}.
Subcellular Location	Mitochondrion matrix.
Subunit	Homodimer. Eukaryotic pyruvate dehydrogenase complexes are organized about a core consisting of the oligomeric dihydrolipoamide acetyl-transferase, around which are arranged multiple copies of pyruvate dehydrogenase, dihydrolipoamide dehydrogenase and protein X bound by non-covalent bonds. {ECO:0000269\|PubMed:15946682, ECO:0000269\|PubMed:16442803}.