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CLCN7 wt Allele

Known as: Chloride Channel, Voltage-Sensitive 7 wt Allele, PPP1R63, OPTB4 
Human CLCN7 wild-type allele is located in the vicinity of 16p13 and is approximately 31 kb in length. This allele, which encodes H(+)/Cl(-) exchange… 
National Institutes of Health

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6 relations
Acid-Base EquilibriumHomo sapiensIonophore activityLigand Binding

Papers overview

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2016
2016
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients
SummaryOsteopetrosis is a group of genetic bone disorders. Mutations in the chloride channel 7 gene (CLCN7) lead to chloride… 
2016
2016
Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2
Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome… 
2014
2014
Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.
Osteopetrosis is a heritable bone disorder that exhibits highly clinical and genetical heterogeneity, and is caused by defective… 
2013
2013
A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series
IntroductionOsteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton. The absence or… 
2009
2009
Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II)
Here we report the identification of two different mutations in chloride channel 7 gene in two unrelated patients with autosomal… 
Highly Cited
2003
Highly Cited
2003
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis
Abstract. Osteopetrosis is a heterogeneous group of inherited disorders that includes a malignant autosomal recessive form, an… 
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