Chloride channel 7 alpha subunit also known as H + /Cl − exchange transporter 7 is a protein that in humans is encoded by the CLCN7 gene. [5] In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor .

Feb 12, 2007 · The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related autosomal recessive osteopetrosis (ARO), intermediate autosomal osteopetrosis (IAO), and autosomal dominant osteopetrosis type II (ADOII; Albers-Schönberg disease).

The CLCN7 gene provides instructions for making a chloride channel called ClC-7. These channels are abundant in cells throughout the body. They are particularly important for the normal function of osteoclasts, which are specialized cells that break down bone tissue.

Mar 28, 2025 · CLCN7 (Chloride Voltage-Gated Channel 7) is a Protein Coding gene. Diseases associated with CLCN7 include Osteopetrosis, Autosomal Dominant 2 and Osteopetrosis, Autosomal Recessive 4. Among its related pathways are Activation of cAMP-Dependent PKA and Ion channel transport.

clcn7 gene mutation is associated with intermediate autosomal recessive osteopetrosis; Autosomal dominant osteopetrosis caused by mutations in the CLCN7 gene is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, and occasional bone marrow failure.

In the following, individuals with autosomal recessive osteopetrosis (ARO) were found to carry biallelic CLCN7 pathogenic variants. Shortly thereafter, heterozygous pathogenic variants were identified as the exclusive cause of autosomal dominant osteopetrosis type 2 (ADO2).

Sep 19, 2024 · Clinical resource with information about CLCN7, Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4, Hypopigmentation, organomegaly, and delayed myelination and development, and available tests.

In this study, we report the identification of a novel variant in the CLCN7 gene in a patient diagnosed with osteopetrosis and provide evidence for its significance (likely deleterious) based on extensive comparative genomics, protein sequence and structure analysis.

Autosomal dominant osteopetrosis II (ADO II) is a genetic bone disorder caused by mutation in the CLCN7 (chloride channel 7) gene, which encodes CLC-7, a Cl-/H + exchanger that provides the chloride conductance required for efficient proton pumping in the osteoclast ruffled membrane .

CLCN7 gene encodes the voltage gated chloride channel 7 (ClC-7) in humans. The mutations in CLCN7 have been associated with osteopetrosis in connection to the abnormal osteoclasts functions.