DLD wt Allele

**Semantic type:** Gene or Genome

**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).

**Synonyms:** - Branched-Chain Alpha-Keto Acid Dehydrogenase Complex, E3 Component Gene - DLDD - DLDH - Dihydrolipoamide Dehydrogenase (E3 Component of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate Complex, Branched Chain Keto Acid Dehydrogenase Complex) Gene - Dihydrolipoamide Dehydrogenase wt Allele - E3 - E3 Component of Pyruvate Dehydrogenase Complex, 2-Oxo-Glutarate Complex, Branched Chain Keto Acid Dehydrogenase Complex Gene - GCSL - LAD - OGDC-E3 - PHE3