CLIC2

CLIC2 (Chloride Intracellular Channel 2) is a protein that in humans is encoded by the CLIC2 gene. It is a member of the chloride intracellular channel (CLIC) family of proteins. CLIC2 is involved in the regulation of ion transport within the cell, and mutations in this gene have been associated with X-linked intellectual disability.

Function

CLIC2 is a member of the p64 CLIC protein family, which are intracellular chloride ion channels that can function both as soluble and membrane proteins. The exact function of CLIC2 is not fully understood, but it is known to be involved in the regulation of ion transport within the cell. It is thought to play a role in maintaining the balance of chloride ions, which is important for many cellular processes, including maintaining osmotic pressure, regulating pH, and controlling cell volume.

Clinical significance

Mutations in the CLIC2 gene have been associated with X-linked intellectual disability. This is a condition characterized by significantly below-average overall intellectual function with deficits in adaptive behavior. The CLIC2 gene mutation can lead to a variety of symptoms, including learning disabilities, speech delay, and behavioral problems.

Research

Research into the function and role of CLIC2 in disease is ongoing. Understanding more about this protein and its associated gene could lead to new treatments for conditions like X-linked intellectual disability.

See also

• Chloride channel
• X-linked intellectual disability

References

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