G6PC1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human G6PC1 wild-type allele is located in the vicinity of 17q21.31 and is approximately 14 kb in length. This allele, which encodes glucose-6-phosphatase catalytic subunit 1 protein, plays a role in the terminal step of glycogenolysis and gluconeogenesis. Mutations in the gene are associated with glycogen storage disease 1A.

**Synonyms:** - G6PC - G6PT - G6Pase - GSD1 - GSD1a - Glucose-6-Phosphatase Catalytic Subunit 1 wt Allele - Glucose-6-Phosphatase, Catalytic (Glycogen Storage Disease Type I, Von Gierke Disease) Gene - Glucose-6-Phosphatase, Catalytic Gene - Glucose-6-Phosphatase, Catalytic, 1 Gene - Glycogen Storage Disease Type I, Von Gierke Disease Gene