DLD, Official Symbol DLDprovided by HGNC Official Full Name dihydrolipoamide dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:2898 See related Ensembl:ENSG00000091140 MIM:238331; AllianceGenome:HGNC:2898 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as E3; LAD; DLDD; DLDH; GCSL; PHE3; OGDC-E3 Summary 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] Expression Ubiquitous expression in heart (RPKM 53.0), fat (RPKM 39.4) and 25 other tissues See more Orthologs mouse all