| Primary Identifier | MGI:104695 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 20278 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) 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 transmembrane transport. Located in external side of plasma membrane. Part of sodium channel complex. Is expressed in several structures, including bladder fundus; lung; metanephros; pharyngo-tympanic tube; and ureter. Used to study autosomal recessive pseudohypoaldosteronism type 1. Human ortholog(s) of this gene implicated in Liddle syndrome; bronchiectasis 3; and pseudohypoaldosteronism. Orthologous to human SCNN1G (sodium channel epithelial 1 subunit gamma). PHENOTYPE: Homozygous mutation of this gene results in partial lethality between 24-36 hours after birth. Newborns exhibit hyperkalemia, clear lung liquid more slowly, and show low urinary potassium and high urinary sodium concentrations. [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
