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Target intelligence / Profile preview
Chloride voltage-gated channel 7 (CLCN7)
- Target
- CLCN7
- Molecular classification
- Ion channel, Transporter
01
Overview
Chloride voltage-gated channel 7 (CLCN7) is an ion transporter that enables the exchange of chloride ions with protons across organellar membranes, notably in lysosomes and osteoclasts. Its function is crucial for acidification in osteoclasts during bone resorption, regulating pH to allow the breakdown of bone tissue. Mutations disrupt channel function, causing improper bone remodeling and resulting in osteopetrosis, characterized by increased bone density and abnormal bone structure. CLCN7 also impacts lysosomal function and pigment production, and genetic variants are associated with lysosomal storage disease and hypopigmentation.
- Other names
- Chloride channel 7Chloride channel protein 7Chloride channel, voltage-sensitive 7ClC-7CLC7CLCN7_HUMANH(+)/Cl(-) exchange transporter 7OPTA2OPTB4PPP1R63FLJ26686FLJ39644FLJ46423
02
Mechanism of action
Inhibition of chloride/proton transport function, which could alter pH regulation relevant in pathologies such as osteopetrosis
03
Biological functions
Lysosomal acidificationRegulation of osteoclast pHBone resorption and remodelingTransport of chloride ions and protons
04
Disease associations
Osteopetrosis (autosomal recessive and dominant forms)Lysosomal storage diseasesDisorders resulting in abnormal bone density (osteopetrosis, hypopigmentation related to gain-of-function variants)
05
Safety considerations
Therapeutic interventions that target CLCN7 must consider potential side effects on bone density, bone strength, and unintended lysosomal dysfunction due to the role of the channel in multiple cell types
06
Biomarkers
Mutations in CLCN7 are used as genetic biomarkers for diagnosis and classification of osteopetrosis subtypes
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