Primary Identifier | MGI:1914720 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 67470 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein heterodimerization activity. Contributes to cholesterol transfer activity. Involved in cholesterol efflux. Acts upstream of or within cholesterol homeostasis and phospholipid transport. Located in apical plasma membrane. Part of receptor complex. Is expressed in several structures, including alimentary system; brain; hemolymphoid system; liver and biliary system; and male reproductive gland or organ. Used to study sitosterolemia 1. Human ortholog(s) of this gene implicated in arteriosclerosis; familial hyperlipidemia; obesity; and sitosterolemia 1. Orthologous to human ABCG8 (ATP binding cassette subfamily G member 8). PHENOTYPE: Homozygous mutants fail to secrete cholesterol into bile and exhibit increased plasma and tissue plant sterol levels. [provided by MGI curators] |