QuickView for Dihydrolipoamide Dehydrogenase (gene)

Gene Symbol:

DLD Homo sapiens

Full name:

dihydrolipoamide dehydrogenase

Synonyms:

DLDD, DLDH, E3, GCSL, LAD, PHE3, dihydrolipoyl dehydrogenase, mitochondrial, E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex, diaphorase, glycine cleavage system L protein, glycine cleavage system protein L, lipoamide dehydrogenase, lipoamide reductase, lipoyl dehydrogenase

Genomic Location:

Chr 7: 107318822-107348879

Description:

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...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Danio rerio ,  Canis lupus familiaris ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  CACCCBINDINGFACTOR_Q6 ,  TGCGCANK_UNKNOWN

Cytogenetic Map:

7q31.1

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