Recombinant Human CLCN7 Protein

The chloride channel protein CLCN7. encoded by the *CLCN7* gene, is a member of the CLC family of chloride channels and transporters. It functions as a voltage-gated chloride/proton antiporter, primarily localized in lysosomes and osteoclast ruffled membranes. CLCN7 plays a critical role in lysosomal ion homeostasis, acidification, and bone resorption by facilitating chloride transport to neutralize pH during osteoclast-mediated bone remodeling. Dysregulation of CLCN7 is linked to severe human diseases: loss-of-function mutations cause osteopetrosis, characterized by dense but brittle bones due to impaired osteoclast activity, while gain-of-function mutations are associated with neurodegeneration, reflecting lysosomal dysfunction in neuronal cells. Recombinant human CLCN7 protein, produced via heterologous expression systems (e.g., HEK293 or insect cells), enables structural and functional studies to dissect its role in cellular physiology. Researchers utilize it to investigate ion transport mechanisms, screen modulators, and model disease-related mutations. Its study provides insights into lysosomal storage disorders and bone metabolism defects, with therapeutic implications for both rare genetic conditions and common degenerative diseases. The protein's dimeric structure, with conserved pore domains and ATP-binding sites, remains a focus for mechanistic and pharmacological exploration.