Gene: LOC107984500

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs201873521 in LOC107984500;SCNN1A gene and LIDDLE SYNDROME 3 PMID 28710092 2017 A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome.

rs137852635 in LOC107984500;SCNN1A gene and Pseudohypoaldosteronism, Type I, Autosomal Recessive PMID 15853823 2005 Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

PMID 10586178 1999 Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel.

PMID 18634878 2008 Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes.