QuickView for CLC7 (gene)

Gene Symbol:

CLCN7 Homo sapiens

Full name:

chloride voltage-gated channel 7

Synonyms:

CLC-7, CLC7, OPTA2, OPTB4, PPP1R63, H(+)/Cl(-) exchange transporter 7, chloride channel 7 alpha subunit, chloride channel protein 7, chloride channel, voltage-sensitive 7, protein phosphatase 1, regulatory subunit 63

Genomic Location:

Chr 16: 1435345-1465013

Description:

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 ty...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Cytogenetic Map:

16p13.3

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