| Primary Identifier | MGI:104696 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 20277 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables WW domain binding activity and ligand-gated sodium channel activity. Involved in intracellular sodium ion homeostasis and sodium ion import across plasma membrane. Acts upstream of or within several processes, including artery smooth muscle contraction; cellular response to aldosterone; and mucus secretion. Located in external side of plasma membrane. Part of sodium channel complex. Is expressed in several structures, including aorta; endocrine gland; genitourinary system; lung; and stomach. Used to study Liddle syndrome; autosomal recessive pseudohypoaldosteronism type 1; and cystic fibrosis. Human ortholog(s) of this gene implicated in Liddle syndrome; bronchiectasis 1; and pseudohypoaldosteronism. Orthologous to human SCNN1B (sodium channel epithelial 1 subunit beta). PHENOTYPE: Homozygous mutation of this gene results in death shortly after birth, decreased serum sodium levels but higher urine sodium levels and increased serum potassium and chloride levels but lower potassium urine levels. Another homozygous mutation exhibits no abnormal phenotype. [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
