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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SCNN1A (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID6337
Official gene symbolSCNN1A
Full namesodium channel, nonvoltage-gated 1 alpha
Aliases,BESC2,ENaCa,ENaCalpha,FLJ21883,SCNEA,SCNN1,
Gene summaryNonvoltage-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]
LocationChromosome: 12   Locus: 12p13
Gene position6486523 - 6456009  Map Viewer
Gene orientationminus
Gene size30515 bp
Gene sequence
OMIM ID600228