CLCN7 refers to a gene that encodes a protein belonging to the chloride channel family. This protein is primarily involved in the transport of chloride ions across cellular membranes. Chloride channels play a crucial role in various physiological processes, including cell volume regulation, electrical excitability of cells, and acid-base balance. Mutations in the CLCN7 gene have been associated with certain genetic disorders, particularly osteopetrosis, a condition characterized by abnormal bone density.
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