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Gene : CLCN7 Homo sapiens

Name  ? chloride voltage-gated channel 7 Cytological Location  16p13.3
Brief Description  chloride voltage-gated channel 7
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 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]
  • synonyms:
  • CLC-7,
  • OPTA2,
  • chloride channel 7,
  • OTTHUMG00000044467,
  • uc002clv.4,
  • PPP1R63,
  • OPTB4,
  • CLC7,
  • OPTA2,
  • CLCN7,
  • NM_001287,
  • protein phosphatase 1, regulatory subunit 63,
  • ClC-7,
  • chloride channel, voltage-sensitive 7,
  • HOD,
  • CLC7,
  • Z67743,
  • HGNC:2025,
  • PPP1R63,
  • CLC-7
  • identifiers:
  • 1186,
  • ENSG00000103249,
  • CLCN7

Genome feature

Region: gene ? Length: 30152  
Location: 16:1444933-1475084 reverse strand Cyto location: 16p13.3


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Disease

3 Diseases

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3753 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results