| Primary Identifier | MGI:99607 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 11303 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables cholesterol transfer activity; phospholipid transporter activity; and protein transmembrane transporter activity. Involved in several processes, including cellular response to lipid; positive regulation of cholesterol efflux; and protein transport. Acts upstream of or within several processes, including cholesterol metabolic process; lipid transport; and phagocytosis, engulfment. Located in Golgi apparatus and external side of plasma membrane. Is expressed in several structures, including alimentary system; connective tissue; genitourinary system; liver and biliary system; and nervous system. Used to study Tangier disease. Human ortholog(s) of this gene implicated in Alzheimer's disease; coronary artery disease; hypolipoproteinemia (multiple); obesity; and type 2 diabetes mellitus. Orthologous to human ABCA1 (ATP binding cassette subfamily A member 1). PHENOTYPE: Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
