CLCN7

CLCN7 is a gene in humans that encodes a chloride channel protein, which is a part of the 'CLC' family of chloride channels and transporters. The CLCN7 gene is located on the long (q) arm of chromosome 16 at position 12.

Function

The CLCN7 gene provides instructions for making a protein that forms a channel, which controls the flow of chloride ions into and out of cells. This protein is found in the membranes of lysosomes and endosomes, which are compartments within cells that break down and recycle different types of molecules. The chloride channel protein is essential for the normal function of osteoclasts, which are cells that break down bone tissue during bone remodeling.

Clinical significance

Mutations in the CLCN7 gene cause a number of medical conditions. These include autosomal dominant osteopetrosis type 2 (ADO2), autosomal recessive osteopetrosis (ARO), and a form of Gaucher disease known as type 3C. These conditions are characterized by abnormalities of bone remodeling, which can lead to increased bone density and bone fractures.

See also

• Chloride channel
• Osteopetrosis
• Gaucher disease

References

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External links

• CLCN7 at NCBI
• CLCN7 at Genetics Home Reference

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