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Gene : DLD Homo sapiens

Name  ? dihydrolipoamide dehydrogenase Cytological Location  7q31.1
Brief Description  dihydrolipoamide dehydrogenase
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 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]
  • synonyms:
  • LAD,
  • HGNC:2898,
  • dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex),
  • DLD,
  • E3,
  • GCSL,
  • AB209703,
  • PHE3,
  • LAD,
  • E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex,
  • DLDH,
  • uc003vet.5,
  • E3,
  • NM_000108,
  • OTTHUMG00000154813,
  • GCSL,
  • DLDH,
  • DLDD
  • identifiers:
  • 1738,
  • ENSG00000091140,
  • DLD

Genome feature

Region: gene ? Length: 30092  
Location: 7:107891107-107921198 Cyto location: 7q31.1


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1 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results