KCNJ14

KCNJ14 is a gene that encodes the protein Kir2.4, a member of the Inwardly rectifying potassium channel family. This family is characterized by a greater tendency to allow potassium to flow into, rather than out of, a cell. Kir2.4, like other members of its family, is known to be involved in controlling the resting membrane potential and regulating the duration of the action potential in neurons and muscle cells.

Function

The KCNJ14 gene provides instructions for making a protein that forms a channel across the cell membrane. This channel, known as an inwardly rectifying potassium channel, allows potassium ions to flow into the cell. The flow of potassium ions through these channels is critical for maintaining the normal functions of muscles and nerves.

Clinical significance

Mutations in the KCNJ14 gene have been associated with various medical conditions. For instance, a specific mutation in this gene has been linked to SeSAME syndrome, a rare disorder characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.

See also

• Potassium channel
• Inwardly rectifying potassium channel
• SeSAME syndrome

References

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