Primary Identifier | MGI:1922004 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 74754 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable enzyme binding activity; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor; and peptide antigen binding activity. Involved in cholesterol biosynthetic process and skin development. Acts upstream of or within several processes, including amyloid precursor protein catabolic process; male genitalia development; and plasminogen activation. Predicted to be located in endoplasmic reticulum and nucleus. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; peripheral nervous system ganglion; and sensory organ. Human ortholog(s) of this gene implicated in lipid metabolism disorder. Orthologous to human DHCR24 (24-dehydrocholesterol reductase). PHENOTYPE: In spite of having almost no plasma or tissue cholesterol, homozygous mutant mice are largely viable and display a mild growth phenotype. Inactivation did impair prenatal viability as well as infertility. [provided by MGI curators] |