SCNN1G

SCNN1G is a gene that encodes the gamma subunit of the epithelial sodium channel (ENaC). ENaC is a part of the aldosterone-sensitive sodium reabsorption pathway in the kidney, lung, and sweat glands. Mutations in this gene have been associated with Liddle syndrome, a form of hypertension.

Function

The SCNN1G gene provides instructions for making one piece, the gamma subunit, of the epithelial sodium channel. This channel, which is made up of three different subunits (alpha, beta, and gamma), transports sodium ions into cells. The movement of sodium ions through these channels plays a key role in a process called reabsorption, where certain molecules are taken back into the body after being released into the urine. This process is critical for maintaining the body's salt balance.

Clinical significance

Mutations in the SCNN1G gene can cause Liddle syndrome. This condition is characterized by early, and often severe, high blood pressure (hypertension). Most of the mutations that cause Liddle syndrome increase the activity of the epithelial sodium channel, which increases reabsorption of sodium ions and fluid into the body. This increase in fluid causes the body to retain more salt than it should, which can lead to hypertension.

See also

• Epithelial sodium channel
• Liddle's syndrome
• Hypertension

References

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SCNN1G gallery

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  SCNN1G gene transcript