Primary Identifier | MGI:105979 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 14381 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glucose-6-phosphate dehydrogenase activity and identical protein binding activity. Involved in pentose-phosphate shunt, oxidative branch. Acts upstream of or within several processes, including NADP biosynthetic process; erythrocyte development; and maintenance of blood vessel diameter homeostasis by renin-angiotensin. Is active in cytosol. Is expressed in several structures, including brain; genitourinary system; immune system; liver; and mammary gland. Used to study favism. Human ortholog(s) of this gene implicated in several diseases, including anemia (multiple); cerebrovascular disease; favism; malaria (multiple); and neonatal jaundice. Orthologous to human G6PD (glucose-6-phosphate dehydrogenase). PHENOTYPE: Null mutants show placental defects and arrest developmentally; hemizygous males dying by day 10.5 and heterozygous females by day 11.5 with the normal X selectively inactive. Hypomorphic mutants show increased mutagenesis and oxidative stress in spleen. [provided by MGI curators] |