PDK3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PDK3 wild-type allele is located in the vicinity of Xp22.11 and is approximately 85 kb in length. This allele, which encodes [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial protein, plays a role in the regulation of glucose metabolism and aerobic respiration. Mutation of the gene is associated with X-linked dominant Charcot-Marie-Tooth disease type 6.

**Synonyms:** - CMTX6 - GS1-358P8.4 - PDHK3 - Pyruvate Dehydrogenase Kinase 3 wt Allele - Pyruvate Dehydrogenase Kinase, Isoenzyme 3 Gene - Pyruvate Dehydrogenase Kinase, Isozyme 3 Gene - Pyruvate Dehydrogenase, Lipoamide, Kinase Isozyme 3, Mitochondrial Gene