Primary Identifier | MGI:2140356 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 100198 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 6-phosphogluconolactonase activity and glucose-6-phosphate dehydrogenase activity. Involved in regulation of cortisol biosynthetic process. Acts upstream of or within pentose-phosphate shunt. Is active in sarcoplasmic reticulum. Is expressed in alimentary system; cerebral cortex; cranium; heart; and liver. Human ortholog(s) of this gene implicated in cortisone reductase deficiency; cortisone reductase deficiency 1; and multiple sclerosis. Orthologous to human H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase). PHENOTYPE: Mice homozygous for a knock-out allele show enlarged adrenal glands, reduced plasma corticosterone levels and altered 11 beta-hydroxysteroid dehydrogenase type 1 enzyme activity. Treatment with 11-dehydrocorticosterone fails to inhibit glucose-stimulated insulin secretion in pancreatic islets. Conditional KO in adipocytes results in decreased fat weight and increased glucose tolerance and insulin sensitivity. [provided by MGI curators] |