SLC12A6

SLC12A6 is a gene that encodes the K-Cl cotransporter KCC3, a member of the SLC12 family of cation-chloride cotransporters. This family of proteins plays a critical role in maintaining the electrochemical gradient across cell membranes.

Function

The SLC12A6 gene is responsible for the production of a protein known as the potassium-chloride cotransporter 3 (KCC3). This protein is involved in the movement of potassium and chloride ions across cell membranes. This movement of ions helps to regulate the amount of water in cells and maintain the electrolyte balance in the body.

Clinical significance

Mutations in the SLC12A6 gene have been associated with a rare neurological disorder known as Andermann syndrome. This condition is characterized by the absence of certain nerve fibers in the peripheral nerves, leading to muscle weakness and sensory loss.

Research

Research into the SLC12A6 gene and its associated protein may provide insights into the mechanisms of electrolyte balance in the body and the pathogenesis of Andermann syndrome.

See also

• SLC12A1
• SLC12A2
• SLC12A3
• SLC12A4
• SLC12A5
• SLC12A7

References

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