EC=1.8.1.4
Alternative name(s):
Dihydrolipoamide dehydrogenase
Glycine cleavage system L protein
Gene names
Name: DLD
Synonyms: GCSL, LAD, PHE3
Organism Homo sapiens (Human) [Reference proteome]
Taxonomic identifier 9606 [NCBI]
Taxonomic lineage Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Protein attributes
Sequence length 509 AA.
Sequence status Complete.
Sequence processing The displayed sequence is further processed into a mature form.
Protein existence Evidence at protein level
General annotation (Comments)
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.
Catalytic activity
Protein N(6)-(dihydrolipoyl)lysine + NAD+ = protein N(6)-(lipoyl)lysine + NADH.
Cofactor
Binds 1 FAD per subunit By similarity.
Subunit structure
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. Ref.12
Subcellular location
Mitochondrion matrix.
Post-translational modification
Tyrosine phosphorylated By similarity.
Involvement in disease
Note=Defects in DLD are involved in the development of congenital infantile lactic acidosis.
Defects in DLD are a cause of maple syrup urine disease (MSUD) [MIM:248600]. MSUD is characterized by 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, resulting from a block in oxidative decarboxylation.
Miscellaneous
The active site is a redox-active disulfide bond.
Sequence similarities
Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family.
