Primary Identifier | MGI:95797 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 14751 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glucose-6-phosphate isomerase activity. Involved in fructose 6-phosphate metabolic process; glucose 6-phosphate metabolic process; and glucose metabolic process. Acts upstream of or within several processes, including erythrocyte homeostasis; glucose homeostasis; and glycolytic process. Located in ciliary membrane. Is active in cytosol. Is expressed in several structures, including alimentary system; central nervous system; metanephros; respiratory system; and sensory organ. Used to study congenital nonspherocytic hemolytic anemia. Human ortholog(s) of this gene implicated in congenital hemolytic anemia; congenital nonspherocytic hemolytic anemia; intellectual disability; and neuromuscular disease. Orthologous to human GPI (glucose-6-phosphate isomerase). PHENOTYPE: Homozygotes for null mutations fail to develop beyond the egg cylinder stage and die by embryonic day 9.5. Homozygotes for a hypomorphic mutation exhibit nonspherocytic hemolytic anemia with hepatosplenomegaly. [provided by MGI curators] |