Recombinant Human H (+)/Cl (-) exchange transporter 7 (CLCN7), Truncated

Uniprot Id

P51798

Target Species

Human

Target Name

CLCN7

Target Full Name

H(+)/Cl(-) exchange transporter 7

Target Function

Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen and may be involved in maintaining lysosomal pH. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters.

Target Involvement

Osteopetrosis, autosomal recessive 4 (OPTB4); Osteopetrosis, autosomal dominant 2 (OPTA2); Osteopetrosis, autosomal recessive 2 (OPTB2)

Target Subcellular Location

Lysosome membrane; Multi-pass membrane protein.

Target Protein Families

Chloride channel (TC 2.A.49) family, ClC-7/CLCN7 subfamily

Target Tissue Specificity

Brain and kidney.

Target Synonyms

Chloride channel protein 7; CLC 7; ClC-7; ClC7; CLCN7; CLCN7_HUMAN; FLJ26686; FLJ39644; FLJ46423; H(+)/Cl(-) exchange transporter 7; OPTA2; OPTB4

Target Background

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.