Preferred Label : SCNN1B wt Allele;
NCIt synonyms : Nasal Epithelial Sodium Channel Beta Subunit Gene; beta-NaCH; PHA1B2; Sodium Channel Epithelial 1 Subunit Beta wt Allele; Epithelial Sodium Channel Beta-3 Subunit Gene; BESC1; Sodium Channel, Non-Voltage-Gated 1, Beta Subunit Gene; Sodium Channel, Epithelial, Beta Subunit Gene; LIDLS1; Sodium Channel, Nonvoltage-Gated 1, Beta Subunit Gene; Sodium Channel, Epithelial 1, Beta Subunit Gene; Sodium Channel Epithelial 1 Beta Subunit Gene; Amiloride-Sensitive Sodium Channel Subunit Beta 1 Gene; ENaCb; Liddle Syndrome Gene; ENaCbeta; SCNEB; Epithelial Sodium Channel Beta-2 Subunit Gene; Sodium Channel, Non Voltage Gated 1 Beta Subunit Gene; beta-ENaC;
NCIt definition : Human SCNN1B wild-type allele is located in the vicinity of 16p12.2 and is approximately
103 kb in length. This allele, which encodes amiloride-sensitive sodium channel subunit
beta protein, is involved in maintaining electrolyte, blood pressure and airway surface
fluid homeostasis. Mutations in the gene are associated with Liddle syndrome type
1, bronchiectasis with or without elevated sweat chloride type 1 and autosomal recessive
pseudohypoaldosteronism type 1B2.;
NCIt note : The SCNN1B gene is expressed as two isoforms, which are produced by alternative splicing.
(UniProt);
NCI Metathesaurus CUI : CL1928989;
GenBank Accession Number : X87159;
Origin ID : C206399;
OMIM relation
- gene_found_in_organism
- gene_is_element_in_pathway
- gene_plays_role_in_process
