Entrez gene ID | | 6337 |
Official gene symbol | | SCNN1A |
Full name | | sodium channel, nonvoltage-gated 1 alpha |
Aliases | | ,BESC2,ENaCa,ENaCalpha,FLJ21883,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. [provided by RefSeq] |
Location | | Chromosome: 12 Locus: 12p13 |
Gene position | | 6486523 - 6456009 Map Viewer |
Gene orientation | | minus |
Gene size | | 30515 bp |
Gene sequence |
| |
OMIM ID | | 600228 |
|