The SCNN1A gene provides instructions for making one piece, the alpha subunit, of a protein complex called the epithelial sodium channel (ENaC). The channel is composed of alpha, beta, and gamma subunits, each of which is produced from a different gene. These channels are found at the surface of certain cells called epithelial cells in many tissues of the body, including the kidneys, lungs, and sweat glands. The ENaC channel transports sodium into cells.
In the kidney, ENaC channels take sodium into cells in response to signals that sodium levels in the body are too low. From the kidney cells, this sodium is returned to the bloodstream rather than being removed from the body (a process called reabsorption). In addition to regulating the amount of sodium in the body, the flow of sodium ions helps control the movement of water in tissues. For example, ENaC channels in lung cells help regulate the amount of fluid in the lungs.
Other Names
alpha-ENaC; alpha-NaCH; amiloride-sensitive epithelial sodium channel alpha subunit; amiloride-sensitive sodium channel subunit alpha; BESC2; ENaCa; ENaCalpha; epithelial Na(+) channel subunit alpha; FLJ21883; nasal epithelial sodium channel alpha subunit; nonvoltage-gated sodium channel 1 subunit alpha; SCNEA; SCNN1; SCNNA_HUMAN; sodium channel, non voltage gated 1 alpha subunit; sodium channel, non-voltage-gated 1 alpha subunit; sodium channel, nonvoltage-gated 1 alpha
Related Genetics Topics
Identifiers
- NCBI Gene: 6337
- OMIM: 600228
- OMIM: 613021
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
