SCNN1A wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - Amiloride-Sensitive Epithelial Sodium Channel Alpha Subunit Gene - Amiloride-Sensitive Sodium Channel Subunit Alpha Gene - BESC2 - ENaCa - ENaCalpha - LIDLS3 - Nasal Epithelial Sodium Channel Alpha Subunit Gene - PHA1B1 - SCNEA - SCNN1 - Sodium Channel Epithelial 1 Alpha Subunit Gene - Sodium Channel Epithelial 1 Subunit Alpha wt Allele - Sodium Channel, Epithelial 1, Alpha Subunit Gene - Sodium Channel, Epithelial, Alpha Subunit Gene - Sodium Channel, Non Voltage Gated 1 Alpha Subunit Gene - Sodium Channel, Non-Voltage-Gated 1 Alpha Gene - Sodium Channel, Nonvoltage-Gated 1 Alpha Gene - Sodium Channel, Nonvoltage-Gated 1, Alpha Subunit Gene