| Primary Identifier | MGI:2386607 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 217265 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATPase-coupled transmembrane transporter activity and lipid transporter activity. Involved in several processes, including cholesterol efflux; negative regulation of macrophage derived foam cell differentiation; and regulation of cholesterol transport. Located in late endosome and lysosome. Is expressed in cortical hem. Orthologous to human ABCA5 (ATP binding cassette subfamily A member 5). PHENOTYPE: Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background. [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
