Glucose-6-Phosphatase (G-6-PASE) 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 - glycolysis and gluconeogenesis; Carbohydrate Metabolism - starch and sucrose; EC 3.1.3.9; Endoplasmic reticulum; Membrane protein, integral; Membrane protein, multi-pass; Phosphatase (non-protein); Transporter; Transporter, SLC family

Chromosomal Location of Human Ortholog: 17q21.31

Cellular Component: endoplasmic reticulum membrane; integral component of endoplasmic reticulum membrane; integral component of membrane

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

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

Disease: Glycogen Storage Disease Ia