Primary Identifier | MGI:97744 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 18984 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables oxidoreductase activity. Predicted to be involved in several processes, including nitric oxide biosynthetic process; oxoacid metabolic process; and positive regulation of steroid biosynthetic process. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; limb; metanephros; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Antley-Bixler syndrome with disordered steroidogenesis; congenital adrenal hyperplasia; and cytochrome P450 oxidoreductase deficiency. Orthologous to human POR (cytochrome p450 oxidoreductase). PHENOTYPE: Homozygotes for targeted null mutations exhibit defects of the neural tube, eye, heart, and limbs, retarded growth, and prenatal lethality. Liver-specific knockouts exhibit increased liver weight, hepatic lipidosis, and impaired drug metabolism. [provided by MGI curators] |