Primary Identifier | MGI:104978 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 13123 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables oxysterol 7-alpha-hydroxylase activity. Involved in B cell chemotaxis and bile acid biosynthetic process. Acts upstream of or within negative regulation of intracellular estrogen receptor signaling pathway; positive regulation of epithelial cell proliferation; and prostate gland epithelium morphogenesis. Predicted to be located in intracellular membrane-bounded organelle. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and sensory organ. Human ortholog(s) of this gene implicated in congenital bile acid synthesis defect 3 and hereditary spastic paraplegia 5A. Orthologous to human CYP7B1 (cytochrome P450 family 7 subfamily B member 1). PHENOTYPE: Mice homozygous for a knock-out allele show significantly increased levels of 25- and 27-hydroxycholesterol, and reduced IgA levels. Female mice homozygous for a reporter allele display early onset of puberty and early ovarian failure. [provided by MGI curators] |