Aliases for G6PC1 Gene
External Ids for G6PC1 Gene
Previous HGNC Symbols for G6PC1 Gene
Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
GeneCards Summary for G6PC1 Gene
G6PC1 (Glucose-6-Phosphatase Catalytic Subunit 1) is a Protein Coding gene. Diseases associated with G6PC1 include Glycogen Storage Disease Ia and Hypoglycemia. Among its related pathways are DNA Damage Response (only ATM dependent) and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. An important paralog of this gene is G6PC2.
UniProtKB/Swiss-Prot Summary for G6PC1 Gene
Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production through glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels.