DLD

This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Description

dihydrolipoamide dehydrogenase

Protein family

Citric acid cycle related proteins, Disease related genes, Enzymes, Mapped to UniProt SWISS-PROT, Mitochondrial proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

7:q31.1 (107890970 - 107931730)

Ensembl ID

ENSG00000091140  (ver. 84.38)

Orthologs

Mouse Dld: ENSMUSG00000020664

UniProt

P09622

neXtProt

NX_P09622

Human splice variants
Mouse splice variants