PCK1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PCK1 wild-type allele is located in the vicinity of 20q13.31 and is approximately 7 kb in length. This allele, which encodes phosphoenolpyruvate carboxykinase, cytosolic [GTP] protein, plays a role in the metabolism of oxaloacetate and the regulation of gluconeogenesis. Mutation in the gene is associated with cytosolic phosphoenolpyruvate carboxykinase deficiency.

**Synonyms:** - PCKDC - PEP Carboxykinase Gene - PEPCK, Cytosolic Gene - PEPCK-C - PEPCK1 - PEPCKC - Phosphoenolpyruvate Carboxykinase 1 (Soluble) Gene - Phosphoenolpyruvate Carboxykinase 1 wt Allele - Phosphoenolpyruvate Carboxykinase, Cytosolic Gene - Phosphoenolpyruvate Carboxylase Gene - Phosphopyruvate Carboxylase Gene