Gene Symbol | SCNN1G |
Entrez Gene ID | 6340 |
Full Name | sodium channel epithelial 1 gamma subunit |
Synonyms | BESC3,ENaCg,ENaCgamma,PHA1,SCNEG |
General protein information |
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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 gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]. |
Disorder MIM: | |
Disorder Html: | Liddle syndrome, 177200 (3); Pseudohypoaldosteronism, type I, 264350 (3); Bronchiectasis with or without elevated sweat chloride 3, 613071 (3) |