CLCN7
chloride channel, voltage-sensitive 7
Synonyms:
CLC-7, CLC7, OPTA2, OPTB4, PPP1R63
Species:
Human CLCN7 (1186), Mouse Clcn7 (26373), Rat Clcn7 (29233), Goat CLCN7 (100861025), Domestic Rabbit CLCN7 (100009007), sheep CLCN7 (101107658), naked mole-rat Clcn7 (101720575), domestic guinea pig Clcn7 (100723969), Zebrafish clcn7 (553351), chicken CLCN7 (416656) ...More
UniProtKB ID:
Gene ID:
- Human(1186) Summary: 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]
- Mouse(26373) chloride channel 7
- Rat(29233) chloride channel, voltage-sensitive 7
- Goat(100861025) chloride channel, voltage-sensitive 7
- Domestic Rabbit(100009007) chloride channel, voltage-sensitive 7
- sheep(101107658) chloride channel, voltage-sensitive 7
- naked mole-rat(101720575) chloride channel, voltage-sensitive 7
- domestic guinea pig(100723969) chloride channel, voltage-sensitive 7
- Zebrafish(553351) chloride channel 7
- chicken(416656) chloride channel, voltage-sensitive 7
- cow(513545) chloride channel 7
- domestic cat(101085517) chloride channel, voltage-sensitive 7
- dog(479889) chloride channel, voltage-sensitive 7
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