SCNN1A

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. [provided by RefSeq, Apr 2009]

Description

Sodium channel epithelial 1 subunit alpha

Tissue specificity

Tissue enhanced (salivary gland)

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Transporters

Chromosome

12 (6346843 - 6377730)

Ensembl ID

ENSG00000111319  (ver. 103.38)

Orthologs

Mouse Scnn1a: ENSMUSG00000030340

UniProt

P37088

neXtProt

NX_P37088

Human splice variants
Mouse splice variants

Protein structure