| Primary Identifier | MGI:1351659 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 27409 |
| 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. Located in apical plasma membrane. Part of receptor complex. Is expressed in liver and nervous system. Human ortholog(s) of this gene implicated in arteriosclerosis; sitosterolemia 1; and sitosterolemia 2. Orthologous to human ABCG5 (ATP binding cassette subfamily G member 5). PHENOTYPE: Homozygotes for a null allele show hyperabsorption of dietary plant sterols and sitosterolemia. Spontaneous mutants are small, infertile and hunched and display anemia, leukopenia, macrothrombocytopenia, other hematologic defects, cardiomyopathy, high plasma phytosterol levels and premature death. [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
