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

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Automated description from the Alliance of Genome Resources (Release 3.2)

Exhibits WW domain binding activity and ligand-gated sodium channel activity. Contributes to sodium channel activity. Involved in several processes, including artery smooth muscle contraction; cellular response to aldosterone; and multicellular organismal water homeostasis. Localizes to external side of plasma membrane; plasma membrane protein complex; and 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; autosomal recessive pseudohypoaldosteronism type 1; bronchiectasis 1; and pseudohypoaldosteronism. Orthologous to human SCNN1B (sodium channel epithelial 1 subunit beta).

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Gene Ontology Evidence Code Abbreviations:

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