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 8.0.0) 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 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] |