KCNJ10

KCNJ10 (also known as Kir4.1) is a protein that in humans is encoded by the KCNJ10 gene. It is a member of the potassium channel, inwardly rectifying subfamily J. This protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in the kidney in controlling the transport of potassium ions.

Function

KCNJ10 is an integral membrane protein and inward-rectifier type potassium channel. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Its main function is to regulate the negative resting potential of neuronal cells and epithelial cells, and it contributes to the regulation of the pH of the cerebrospinal fluid.

Clinical significance

Mutations in the KCNJ10 gene have been associated with SeSAME syndrome, a rare autosomal recessive disorder characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.

Structure

The KCNJ10 protein is composed of two identical subunits, each with two transmembrane domains, an extracellular loop, and a cytoplasmic N- and C-terminus. The channel pore is formed by the transmembrane domains of the two subunits.

See also

• Inward-rectifier potassium ion channels
• SeSAME syndrome

External links

• KCNJ10 at the National Center for Biotechnology Information

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