Primary Identifier | MGI:95607 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 14377 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glucose-6-phosphatase activity and phosphotransferase activity, alcohol group as acceptor. Involved in gluconeogenesis. Acts upstream of or within several processes, including cholesterol homeostasis; glucose-6-phosphate transport; and glycogen catabolic process. Is active in endoplasmic reticulum. Is expressed in several structures, including cerebral cortex; heart; liver; metanephros; and small intestine. Used to study glycogen storage disease Ia. Human ortholog(s) of this gene implicated in glycogen storage disease Ia; hepatocellular carcinoma; and type 2 diabetes mellitus. Orthologous to human G6PC1 (glucose-6-phosphatase catalytic subunit 1). PHENOTYPE: Mice homozygous for disruptions in this gene tend to die within a couple of weeks of weaning. Blood chemistry and glucose metabolism are abnormal as is glycogen storage. [provided by MGI curators] |