SCNN1A : sodium channel epithelial 1 subunit alpha
Description
The SCNN1A (sodium channel epithelial 1 subunit alpha) is a protein-coding gene located on chromosome 12.
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.
SCNN1A is also known as BESC2, ENaCa, ENaCalpha, LIDLS3, PHA1B1, SCNEA, SCNN1.
Associated Diseases
- Pseudohypoaldosteronism, type I, autosomal recessive
- Bronchiectasis with or without elevated sweat chloride 2
- Generalized pseudohypoaldosteronism type 1
- Liddle syndrome 3
- Idiopathic bronchiectasis
- Brugada syndrome
- Liddle syndrome
- Pseudohypoaldosteronism type 1
