| Primary Identifier | MGI:101782 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 20276 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables WW domain binding activity and ligand-gated sodium channel activity. Contributes to sodium channel activity. Involved in intracellular sodium ion homeostasis and sodium ion import across plasma membrane. Acts upstream of or within cellular response to aldosterone and sodium ion transport. Located in cytosol and external side of plasma membrane. Part of sodium channel complex. Is expressed in several structures, including colon; heart; hindgut; liver; and lung. Human ortholog(s) of this gene implicated in Liddle syndrome; bronchiectasis 2; and pseudohypoaldosteronism. Orthologous to human SCNN1A (sodium channel epithelial 1 subunit alpha). PHENOTYPE: Homozygotes for targeted null mutations exhibit skin with epithelial hyperplasia, abnormal nuclei, premature lipid secretion, and abnormal keratohyaline granules. Mutants die within 40 hours of birth due to inability to clear their lungs of liquid. [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
