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CLCN7 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CLCN7 gene

The CLCN7 gene provides instructions for the ClC-7 chloride channel, which is vital for bone remodeling and is associated with osteopetrosis.

Normal Function

The CLCN7 gene belongs to the CLC family of genes, which provide instructions for making chloride channels. These channels transport negatively charged chloride ions and play a key role in a cell's ability to generate and transmit electrical signals.

The CLCN7 gene provides instructions for making a chloride channel called ClC-7. These channels are particularly important for the normal function of osteoclasts, which are specialized cells that break down bone tissue. Osteoclasts are involved in bone remodeling, a process where old bone is removed and replaced by new bone to keep the skeleton strong and healthy.

ClC-7 channels help regulate the relative acidity (pH) of osteoclasts by transporting two chloride ions out of the cell for every hydrogen ion that flows in. This balances the acidic environment osteoclasts use to dissolve bone tissue.

Health Conditions Related to Genetic Changes

Osteopetrosis

More than 50 mutations in the CLCN7 gene have been identified in people with osteopetrosis. Mutations impair the function of ClC-7 channels, disrupting the regulation of pH in osteoclasts. As a result, osteoclasts are unable to break down bone normally. When old bone is not removed as new bone is formed, the skeleton becomes unusually dense and structurally abnormal, making bones prone to fracture.

Mutations in this gene can cause several forms of the disorder:

  • Autosomal recessive osteopetrosis (ARO): The most severe form.
  • Autosomal dominant osteopetrosis (ADO): Tends to be milder.
  • Intermediate autosomal osteopetrosis (IAO): A moderate form.

Other Names for This Gene

  • chloride channel 7
  • chloride channel protein 7
  • chloride channel, voltage-sensitive 7
  • CLC-7
  • CLC7
  • OPTA2
  • PPP1R63

Frequently Asked Questions

Therapy is individualized. For milder autosomal dominant forms, supportive care (calcium‑balanced diet, physiotherapy, fracture management) may suffice. Severe autosomal recessive disease may benefit from hematopoietic stem cell transplantation (HSCT), which can provide functional osteoclast precursors and improve bone remodeling. Interferon‑γ and calcitriol have been tried with limited success. Orthopedic surgery may be needed for deformities or fractures. A multidisciplinary team should evaluate eligibility for HSCT early, as outcomes are better before irreversible complications develop.
Key signs include bone pain, frequent fractures despite high bone density, delayed tooth eruption, anemia or low blood counts (due to marrow crowding), and visual or hearing problems from nerve compression. In infants, failure to thrive and recurrent infections can also occur. If any of these are present, especially in combination with radiographic “bone‑in‑bone” appearance, a referral for genetic evaluation is warranted.
CLCN7 mutations can be inherited in either an autosomal recessive or dominant pattern, depending on the specific variant. A dominant pathogenic variant gives each child a 50 % chance of inheriting the mutation and potentially developing disease (often milder). A recessive variant requires both parents to be carriers; each child then has a 25 % risk of being affected, a 50 % chance of being a carrier, and a 25 % chance of being unaffected and not a carrier. Genetic counseling can clarify your specific mutation’s inheritance and discuss options such as prenatal diagnostic testing (chorionic villus sampling or amniocentesis) or pre‑implantation genetic diagnosis (PGD) with IVF to select embryos without the disease‑causing allele.
ClC‑7 transports chloride out of osteoclasts while they pump protons into the resorption lacuna, maintaining an acidic environment needed to dissolve bone mineral. Mutations impair this acid‑balance, so osteoclasts cannot effectively resorb bone. New bone continues to be laid down, creating overly dense but brittle bone that lacks normal remodeling, making it prone to fracture and deformity.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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