Primary Identifier | MGI:1338044 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 13124 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable sterol 12-alpha-hydroxylase activity. Involved in bile acid biosynthetic process and positive regulation of intestinal cholesterol absorption. Predicted to be located in endoplasmic reticulum and membrane. Is expressed in several structures, including liver; lung; skeletal muscle; spleen; and testis. Orthologous to human CYP8B1 (cytochrome P450 family 8 subfamily B member 1). PHENOTYPE: Mice homozygous for a knock-out allele lack synthsesis of cholate (a primary bile acid) and its metabolites and display an increased bile acid pool and alterations in cholesterol metabolism. [provided by MGI curators] |