Glucose-6-Phosphatase, Catalytic (G6PC) ELISA Kit for Human

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]

G6PC: 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. Defects in G6PC are the cause of glycogen storage disease type 1A (GSD1A). A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Belongs to the glucose-6-phosphatase family.

Protein type: Carbohydrate Metabolism - galactose; Carbohydrate Metabolism - starch and sucrose; Phosphatase (non-protein); Membrane protein, integral; Transporter; Carbohydrate Metabolism - glycolysis and gluconeogenesis; EC 3.1.3.9; Transporter, SLC family; Membrane protein, multi-pass; Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 17q21

Cellular Component: endoplasmic reticulum membrane; integral to membrane; integral to endoplasmic reticulum membrane

Molecular Function: glucose-6-phosphatase activity; phosphotransferase activity, alcohol group as acceptor; phosphate binding

Biological Process: steroid metabolic process; glycogen metabolic process; response to food; phosphorylated carbohydrate dephosphorylation; glycogen catabolic process; multicellular organism growth; glucose 6-phosphate metabolic process; pathogenesis; glucose transport; glucose homeostasis; gluconeogenesis; cholesterol homeostasis; triacylglycerol metabolic process; urate metabolic process; regulation of gene expression; glucose-6-phosphate transport; hexose transport; carbohydrate metabolic process; transmembrane transport

Disease: Glycogen Storage Disease Ia