Preferred Label : SCNN1G wt Allele;
NCIt synonyms : PHA1B3; ENaC Gamma Subunit Gene; BESC3; PHA1; Sodium Channel, Non-Voltage-Gated 1, Gamma Subunit Gene; Sodium Channel, Epithelial, Gamma Subunit Gene; LDLS2; Sodium Channel, Epithelial 1, Gamma Subunit Gene; Sodium Channel Epithelial 1 Gamma Subunit Gene; Sodium Channel Epithelial 1 Subunit Gamma wt Allele; ENaCg; Sodium Channel, Nonvoltage-Gated 1, Gamma Subunit Gene; Amiloride-Sensitive Sodium Channel Gamma-Subunit Gene; ENaCgamma; Sodium Channel, Nonvoltage-Gated 1, Gamma Gene; SCNEG; Sodium Channel, Non Voltage Gated 1 Gamma Subunit Gene; Amiloride-Sensitive Epithelial Sodium Channel Gamma Subunit Gene;
NCIt definition : Human SCNN1G wild-type allele is located in the vicinity of 16p12.2 and is approximately
34 kb in length. This allele, which encodes amiloride-sensitive sodium channel subunit
gamma protein, plays a role in the reabsorption of sodium in kidney, colon, lung and
sweat glands. Mutations in the gene are associated with Liddle syndrome type 2, bronchiectasis
with or without elevated sweat chloride type 3 and autosomal recessive pseudohypoaldosteronism
type 1B3.;
NCI Metathesaurus CUI : CL1928981;
GenBank Accession Number : U48937;
Origin ID : C206403;
OMIM relation
- gene_found_in_organism
- gene_is_element_in_pathway
- gene_plays_role_in_process
