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DLD dihydrolipoamide dehydrogenase

Gene ID: 1738, updated on 5-Jan-2022
Gene type: protein coding
Also known as: E3; LAD; DLDD; DLDH; GCSL; PHE3; OGDC-E3


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]

Associated conditions

See all available tests in GTR for this gene

Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Maple syrup urine disease, type 3See labs
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.
GeneReviews: Not available

Genomic context

Chromosome: 7; NC_000007.14 (107891107..107921198)
Total number of exons:


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