Gene: SCNN1A

Alternate names for this Gene: BESC2|ENaCa|ENaCalpha|LIDLS3|SCNEA|SCNN1

Gene Summary: Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 12

Location in Chromosome : 12p13.31

Description of this Gene: sodium channel epithelial 1 subunit alpha

Type of Gene: protein-coding