| Primary Identifier | MGI:88388 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 12638 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables bicarbonate transmembrane transporter activity and chloride channel activity. Involved in several processes, including cellular response to cAMP; membrane hyperpolarization; and positive regulation of enamel mineralization. Acts upstream of or within chloride transport; cholesterol biosynthetic process; and cholesterol transport. Located in apical plasma membrane and cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; musculoskeletal system; and respiratory tract epithelium. Used to study cystic fibrosis. Human ortholog(s) of this gene implicated in several diseases, including allergic bronchopulmonary aspergillosis; bronchial disease (multiple); congenital bilateral absence of vas deferens (multiple); lung disease (multiple); and pancreatitis (multiple). Orthologous to human CFTR (CF transmembrane conductance regulator). PHENOTYPE: Homozygotes for targeted null mutations exhibit high mortality associated with intestinal obstruction, and altered mucous and serous glands. Mutants, like humans with cystic fibrosis, also exhibit defective epithelial chloride transport. [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
