Aliases for G6PC Gene
External Ids for G6PC Gene
Previous HGNC Symbols for G6PC Gene
Previous GeneCards Identifiers for G6PC 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 G6PC Gene
G6PC (Glucose-6-Phosphatase Catalytic Subunit) is a Protein Coding gene. Diseases associated with G6PC include Glycogen Storage Disease Ia and Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency. Among its related pathways are Glycosaminoglycan metabolism and DNA Damage Response (only ATM dependent). Gene Ontology (GO) annotations related to this gene include phosphotransferase activity, alcohol group as acceptor and glucose-6-phosphatase activity. An important paralog of this gene is G6PC2.
UniProtKB/Swiss-Prot for G6PC 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.