G6PC

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]

Description

glucose-6-phosphatase, catalytic subunit

Protein family

Enzymes, Membrane proteins predicted by MDM

Chromosome

17:q21.31 (41052814 - 41065386)

Ensembl ID

ENSG00000131482  (ver. 69.37)

Orthologs

Mouse G6pc: ENSMUSG00000078650

Human splice variants
Mouse splice variants