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CLCN7

The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood.
Protein class

Disease related genes, Human disease related genes, Potential drug targets, Transporters

Predicted location

Membrane

Single cell type specificity

Cell type enhanced (Horizontal cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits.

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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