SCNN1G : sodium channel epithelial 1 subunit gamma

Description

The SCNN1G (sodium channel epithelial 1 subunit gamma) is a protein-coding gene located on chromosome 16.

The SCNN1G gene provides instructions for making one piece, the gamma 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 open in response to signals that sodium levels in the blood are too low, which allows sodium to flow into cells. From the kidney cells, this sodium is returned to the bloodstream (a process called reabsorption) rather than being removed from the body in urine. 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.

The SCNN1G gene encodes a protein subunit that forms part of the epithelial sodium channel (ENaC). This channel, which is found in various epithelial cells throughout the body, allows sodium ions to pass through cell membranes. It plays a vital role in maintaining electrolyte balance and blood pressure by controlling sodium reabsorption in the kidneys, colon, lungs, and sweat glands. The channel also contributes to airway surface liquid homeostasis, necessary for effective mucus clearance, and is involved in taste perception.

SCNN1G is also known as BESC3, ENaCg, ENaCgamma, LDLS2, PHA1, PHA1B3, SCNEG.

Associated Diseases

• Liddle syndrome
• Generalized pseudohypoaldosteronism type 1
• Bronchiectasis with or without elevated sweat chloride 3
• Liddle syndrome 2
• Idiopathic bronchiectasis
• Pseudohypoaldosteronism, type IB3, autosomal recessive
• Pseudohypoaldosteronism type 1