PDHX wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PDHX wild-type allele is located in the vicinity of 11p13 and is approximately 105 kb in length. This allele, which encodes pyruvate dehydrogenase protein X component, mitochondrial protein, is involved in the regulation of pyruvate dehydrogenase activity. Mutation of the gene is associated with lactic acidosis due to pyruvate dehydrogenase E3-binding protein deficiency.

**Synonyms:** - DLDBP - E3BP - OPDX - PDHXD - PDX1 - Pyruvate Dehydrogenase Complex Component X wt Allele - Pyruvate Dehydrogenase Complex, Component X Gene - proX