PC wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PC wild-type allele is located in the vicinity of 11q13.2 and is approximately 110 kb in length. This allele, which encodes pyruvate carboxylase, mitochondrial protein, plays a role in gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Loss of function mutations in the gene are associated with pyruvate carboxylase deficiency.

**Synonyms:** - PCB - Pyruvate Carboxylase wt Allele