Preferred Label : SCNN1A wt Allele;
NCIt synonyms : Sodium Channel, Non-Voltage-Gated 1 Alpha Gene; Sodium Channel, Epithelial, Alpha Subunit Gene; PHA1B1; Amiloride-Sensitive Sodium Channel Subunit Alpha Gene; Sodium Channel, Nonvoltage-Gated 1 Alpha Gene; BESC2; Sodium Channel, Epithelial 1, Alpha Subunit Gene; Sodium Channel Epithelial 1 Alpha Subunit Gene; Sodium Channel, Nonvoltage-Gated 1, Alpha Subunit Gene; LIDLS3; Sodium Channel, Non Voltage Gated 1 Alpha Subunit Gene; Amiloride-Sensitive Epithelial Sodium Channel Alpha Subunit Gene; Sodium Channel Epithelial 1 Subunit Alpha wt Allele; ENaCalpha; ENaCa; SCNEA; SCNN1; Nasal Epithelial Sodium Channel Alpha Subunit Gene;
NCIt definition : Human SCNN1A wild-type allele is located in the vicinity of 12p13.31 and is approximately
31 kb in length. This allele, which encodes amiloride-sensitive sodium channel subunit
alpha protein, plays a role in electrolyte, blood pressure and airway surface liquid
homeostasis, and in the reabsorption of sodium in kidney, colon, lung and eccrine
sweat glands. Mutations in the gene are associated with Liddle syndrome type 3, bronchiectasis
with or without elevated sweat chloride type 2 and autosomal recessive pseudohypoaldosteronism
type 1B1.;
NCIt note : The SCNN1A gene is expressed as six isoforms, which are produced by alternative splicing.
Isoforms 1 and 2 are predominantly expressed in all tissues, while expression of isoforms
3, 4 and 5 are very low or undetectable, except in lung and heart. (UniProt);
NCI Metathesaurus CUI : CL1928988;
GenBank Accession Number : Z92978;
Origin ID : C206396;
OMIM relation
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
