Name

CLCN7 Gene

chloride channel, voltage-sensitive 7

The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]

clcn7 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term clcn7 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

CLCN7 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for CLCN7 from the Pathway Commons Protein-Protein Interactions dataset.