Go Annotations as Summary Text (Tabular View) (GO Graph)

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Automated description from the Alliance of Genome Resources

Exhibits WW domain binding activity and ligand-gated sodium channel activity. Contributes to sodium channel activity. Involved in sodium ion transport. Localizes to the external side of plasma membrane and sodium channel complex. Used to study Liddle syndrome; autosomal recessive pseudohypoaldosteronism type 1; and cystic fibrosis. Human ortholog(s) of this gene implicated in Liddle syndrome; autosomal recessive pseudohypoaldosteronism type 1; bronchiectasis 1; and pseudohypoaldosteronism. Is expressed in several structures, including aorta; endocrine gland; genitourinary system; lung; and stomach. Orthologous to human SCNN1B (sodium channel epithelial 1 beta subunit).

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Gene Ontology Evidence Code Abbreviations:

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