| Primary Identifier | MGI:102709 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 12389 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables several functions, including enzyme binding activity; oxysterol binding activity; and protein heterodimerization activity. Involved in several processes, including negative regulation of programmed cell death; regulation of gene expression; and regulation of heart contraction. Acts upstream of with a negative effect on lactation. Acts upstream of or within several processes, including blood vessel diameter maintenance; blood vessel morphogenesis; and negative regulation of signal transduction. Located in several cellular components, including acrosomal membrane; caveola; and perinuclear region of cytoplasm. Part of caveolar macromolecular signaling complex. Colocalizes with focal adhesion. Is expressed in several structures, including cardiovascular system; cerebral cortex; lung; paraxial mesenchyme; and tooth. Used to study Alzheimer's disease; breast cancer; and hypertrophic cardiomyopathy. Human ortholog(s) of this gene implicated in several diseases, including breast cancer (multiple); lipodystrophy (multiple); primary open angle glaucoma; primary pulmonary hypertension; and systemic scleroderma (multiple). Orthologous to human CAV1 (caveolin 1). PHENOTYPE: Homozygous targeted mutants displayed vascular system dysfunctions and thickening of lung aveloar septa from hyperproliferation and fibrosis, ultimately causing the mice physical limitations. Mice also display increased incidence of calcium calculi, kidney stones, and decreased adiposity. [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
