Preferred Label : DLD wt Allele;
NCIt synonyms : DLDH; E3; LAD; Dihydrolipoamide Dehydrogenase (E3 Component of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate
Complex, Branched Chain Keto Acid Dehydrogenase Complex) Gene; GCSL; E3 Component of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate Complex, Branched
Chain Keto Acid Dehydrogenase Complex Gene; OGDC-E3; Branched-Chain Alpha-Keto Acid Dehydrogenase Complex, E3 Component Gene; PHE3; DLDD; Dihydrolipoamide Dehydrogenase wt Allele;
NCIt definition : Human DLD wild-type allele is located in the vicinity of 7q31.1 and is approximately
41 kb in length. This allele, which encodes dihydrolipoyl dehydrogenase, mitochondrial
protein, plays a role in the metabolism of glycine, pyruvate, alpha-ketoglutarate
and branched-chain amino acids. Mutations in the gene are associated with dihydrolipoamide
dehydrogenase deficiency (maple syrup urine disease 3).;
GenBank Accession Number : AB209703;
Origin ID : C215877;
OMIM relation
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
