H(+)/Cl(-) exchange transporter 7
Function
Slowly voltage-gated channel mediating the exchange of chloride ions against protons (PubMed:18449189, PubMed:21527911). Functions as antiporter and contributes to the acidification of the lysosome lumen and may be involved in maintaining lysosomal pH (PubMed:18449189, PubMed:21527911, PubMed:31155284). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (By similarity). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity).
Involvement in disease
Osteopetrosis, autosomal recessive 4
OPTB4
A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.
None
The disease is caused by variants affecting the gene represented in this entry.
Osteopetrosis, autosomal dominant 2
OPTA2
A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base.
None
The disease is caused by variants affecting the gene represented in this entry.
Hypopigmentation, organomegaly, and delayed myelination and development
HOD
An autosomal dominant pleiotropic syndrome characterized by skin and hair hypopigmentation, growth and developmental delay, organomegaly including enlarged liver, spleen and kidneys, delayed brain myelination and developmental deficit in motor skills. Skin and liver biopsies show cellular accumulation of large intracellular vacuoles.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the chloride channel (TC 2.A.49) family. ClC-7/CLCN7 subfamily.
Tissue Specificity
Brain and kidney.
Cellular localization
- Lysosome membrane
- Multi-pass membrane protein
Alternative names
H(+)/Cl(-) exchange transporter 7, Chloride channel 7 alpha subunit, Chloride channel protein 7, ClC-7, CLCN7