CLCN7 : chloride voltage-gated channel 7
Description
The CLCN7 (chloride voltage-gated channel 7) is a protein-coding gene located on chromosome 16.
The CLCN7 gene provides instructions for making a chloride channel called ClC-7, which is found in various cells throughout the body. These channels are particularly important for osteoclasts, specialized cells responsible for breaking down bone tissue. Osteoclasts play a key role in bone remodeling, a process where old bone is removed and new bone is created. The proper functioning of osteoclasts is crucial for maintaining healthy and strong bones. ClC-7 channels are involved in regulating the acidity (pH) within osteoclasts. They transport chloride ions out of the cell while allowing hydrogen ions to enter, helping balance the acidic environment that osteoclasts use to dissolve bone tissue. Maintaining the correct pH is essential for effective bone breakdown by osteoclasts.
CLCN7 acts as a slowly voltage-gated channel that facilitates the exchange of chloride ions for protons. This antiporter function contributes to the acidification of lysosomal compartments and may play a role in maintaining lysosomal pH. The CLCN7 protein belongs to the CLC channel family, which includes both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is a characteristic feature of family members that function as antiporters.
CLCN7 is also known as CLC-7, CLC7, HOD, OPTA2, OPTB4, PPP1R63.
Associated Diseases
- Albers-Schönberg osteopetrosis
- Intermediate osteopetrosis
- Hypopigmentation, organomegaly, and delayed myelination and development
- Osteopetrosis, autosomal dominant 2
- Osteopetrosis, autosomal recessive 4
- Autosomal recessive malignant osteopetrosis
- Osteopetrosis
