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 Type Ia. Among its related pathways are Glycosaminoglycan metabolism and Glucagon signaling pathway. 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 G6PC3.
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.