| Gene Symbol | SCNN1A |
| Entrez Gene ID | 6337 |
| Full Name | sodium channel epithelial 1 alpha subunit |
| Synonyms | BESC2,ENaCa,ENaCalpha,SCNEA,SCNN1 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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, Apr 2009]. |
| Disorder MIM: | |
| Disorder Html: | Pseudohypoaldosteronism, type I, 264350 (3); Bronchiectasis with or without elevated sweat chloride 2, 613021 (3) |









































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