Recombinant Human H (+)/Cl (-) exchange transporter 7 (CLCN7), partial

1. In this study, whole exome sequencing (WES) was successfully used in six patients with malignant infantile osteopetrosis (MIOP) and identified mutations in four MIOP-related genes (CLCN7, TCIRG1, SNX10, and TNFRSF11A). PMID: 27187610
2. The present study revealed three novel mutations, showed the dense but brittle sclerotic bones of an autosomal dominant osteopetrosis type II (OPTA2) patient, characterized OPTA2 symptoms from benign to fatal and reported a rare intermediate case of autosomal recessive 4 in a Chinese population. PMID: 28975865
3. we identified a CLCN7 mutation in a family with autosomal dominant osteopetrosis, RTA, renal stones, epilepsy, and blindness. PMID: 27540713
4. present findings suggest that the novel missense mutations V289L and A542V in the CLCN7 gene were responsible for autosomal dominant osteopetrosis (type II) in the two Chinese families. PMID: 26056022
5. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. PMID: 27325559
6. The present study identified seven novel mutations of the CLCN7 gene and reported the first case of intermediate autosomal recessive osteopetrosis. with compound heterozygous mutation in the Chinese population. PMID: 26395888
7. study demonstrates a wide heterogeneity in the progression of the phenotypes and expanded the mutational spectrum for the CLCN7 gene PMID: 26477479
8. the unusual clinical presentation observed in our patient with a mild clinical onset evolving towards a more serious clinical picture, is associated to two novel mutations on CLCN7 gene. PMID: 25410126
9. Results show that ClC-7 is strongly expressed in OUMS-27,a chondrocyte cell line and is responsible for Cl- current. Its downregulation during the hypoosmotic stress accompanying osteoarthritis progression is part of the complex etiology of the disease. PMID: 25943117
10. analysis demonstrates that CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization, and that there is a need to modify the current classification of osteopetrosis PMID: 24108692
11. recurrent p.Gly215Arg mutation and novel missense mutations p.Ala299Val and p.Trp319Arg in the CLCN7 gene were responsible for these three Chinese ADO-II families. PMID: 23953223
12. ClC-7 does not appear to be crucially involved in gastric acid secretion, which explains the absence of an osteopetrorickets phenotype in CLCN7-related osteopetrosis. PMID: 24103576
13. Eight mutations, including two reported mutations (R767W and E798FS) and six novel mutations (E313K, A316G, R743W, G741R, W127G and S290F), were detected in the CLCN7 gene from 12 living autosomal dominant osteopetrosis type II patients. PMID: 21947783
14. The authors show that both the aminoterminus and transmembrane span of the Ostm1 beta-subunit are required for ClC-7 Cl(-)/H(+)-exchange, whereas the Ostm1 transmembrane domain suffices for its ClC-7-dependent trafficking to lysosomes. PMID: 21527911
15. Rat G213R ClC-7 is the analogue of human G215R ClC-7 responsible for autosomal dominant osteopetrosis type II. PMID: 20830208
16. Elevated serum LDH isoenzymes and AST indicate a disturbance (of uncertain clinical significance) within multiple extraosseous tissues when there is CLCN7 deficiency. PMID: 20499337
17. We report on the fatal clinical course of a 3 year old male Turkish patient suffering from osteopetrosis caused by a homozygous mutation in the chloride channel gene ClCN7 with developing pancytopenia and severe neurological impairment. PMID: 19904698
18. That the CLCN7 mutations provoke a phenotype as severe as the one caused by TCIRG1 loss of function suggests the affected residues to be crucial for the function of the ClC-7 chloride channel or chloride/proton-exchanger PMID: 20424301
19. The characterization of 25 unpublished patients has resulted in the identification of 20 novel mutations, including 11 missense mutations, 6 causing premature termination, 1 small deletion and 2 putative splice site defects and clinical heterogeneity. PMID: 19953639
20. clcn7 gene mutation is associated with intermediate autosomal recessive osteopetrosis PMID: 12522560
21. mutations in the CICN7 gene are responsible for autosomal dominant osteopetrosis, type II, an uncommon sclerosing bone disorder PMID: 12929941
22. ClCN7 mutations have roles in severe recessive, dominant, and intermediate osteopetrosis PMID: 14584882
23. ClC-7 has a role in causing autosomal dominant osteopetrosis type II PMID: 15111300
24. The study indicates that the V418M polymorphism of CLCN7 contributes to the genetic regulation of femoral neck BMD in women. PMID: 16234969
25. Significant association of CLCN7 polymorphisms with the variance of bone density in postmenopausal women with osteopetrosis. PMID: 16368748
26. Autosomal dominant osteopetrosis caused by mutations in the CLCN7 gene is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, and occasional bone marrow failure. PMID: 17164308
27. ClC-7 is a Cl-/H+ antiporter; it constitutes the major Cl- permeability of lysosomes, and it is important in lysosomal acidification. PMID: 18449189
28. Genetic variation in the CLCN7 gene is not a major contributor to the variability in peak BMD at the femoral neck and lumber spine in healthy premenopausal white women and in white men PMID: 18755304
29. These data demonstrate that ClC-7 is essential for bone resorption, via its role in acidification of the lysosomes and resorption lacunae in osteoclasts PMID: 19070589
30. Findings suggest that the novel Glu798FS mutation in exon 25 and R767W in exon 24 in the CLCN7 gene were responsible for autosomal dominant osteopetrosis (type II) in two Chinese patients. PMID: 19288050
31. Mutations in TCIRG1, OSTM1, ClCN7, and TNFRSF11A genes were detected in nine, three, one, and one patientswith infantile malignant osteopetrosis, respectively. PMID: 19507210
32. results suggest that osteoclastic ClC7 Cl(-) channels are activated under extracellar acidification and suppressed in Clcn7 mutant associated with autosomal osteopetrosis type II during bone resorption. PMID: 19543743

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HGNC: 2025

OMIM: 166600

KEGG: hsa:1186

STRING: 9606.ENSP00000372193

UniGene: Hs.459649