CLCN7

Mutations in the CLCN7 gene have been reported to be associated with autosomal dominant osteopetrosis type II, a rare disease of bones.{{cite journal |vauthors=Coudert AE, Del Fattore A, Baulard C, Olaso R, Schiltz C, Collet C, Teti A, de Vernejoul MC | title = Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology | journal = Lab. Invest. | volume = 94 | issue = 3 | pages = 275–85 | year = 2014 | pmid = 24336069 | doi = 10.1038/labinvest.2013.140 | s2cid = 5097233 | url = https://hal.archives-ouvertes.fr/hal-01511438/file/labinvest2013AEC.pdf | doi-access = free }}

• Chloride channel

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• {{cite journal |vauthors=Brandt S, Jentsch TJ |title=ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family |journal=FEBS Lett. |volume=377 |issue= 1 |pages= 15–20 |year= 1996 |pmid= 8543009 |doi=10.1016/0014-5793(95)01298-2 |s2cid=717696 |doi-access= }}
• {{cite journal | author=Héon E |title=Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21 |journal=Arch. Ophthalmol. |volume=114 |issue= 2 |pages= 193–8 |year= 1996 |pmid= 8573024 |doi= 10.1001/archopht.1996.01100130187014| author2=Piguet B | author3=Munier F | display-authors=3 | last4=Sneed | first4=SR | last5=Morgan | first5=CM | last6=Forni | first6=S | last7=Pescia | first7=G | last8=Schorderet | first8=D | last9=Taylor | first9=CM }}
• {{cite journal |vauthors=Lennon G, Auffray C, Polymeropoulos M, Soares MB |title=The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression |journal=Genomics |volume=33 |issue= 1 |pages= 151–2 |year= 1996 |pmid= 8617505 |doi= 10.1006/geno.1996.0177 |doi-access= free }}
• {{cite journal | author=Eggermont J |title=The exon-intron architecture of human chloride channel genes is not conserved |journal=Biochim. Biophys. Acta |volume=1397 |issue= 2 |pages= 156–60 |year= 1998 |pmid= 9565675 |doi= 10.1016/s0167-4781(98)00014-1}}
• {{cite journal | author=White KE |title=Locus heterogeneity of autosomal dominant osteopetrosis (ADO) |journal=J. Clin. Endocrinol. Metab. |volume=84 |issue= 3 |pages= 1047–51 |year= 1999 |pmid= 10084593 | author2=Koller DL | author3=Takacs I | display-authors=3 | last4=Buckwalter | first4=KA | last5=Foroud | first5=T | last6=Econs | first6=MJ |doi=10.1210/jcem.84.3.5578 |s2cid=46056019 |doi-access=free}}
• {{cite journal | author=Daniels RJ |title=Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16 |journal=Hum. Mol. Genet. |volume=10 |issue= 4 |pages= 339–52 |year= 2001 |pmid= 11157797 |doi=10.1093/hmg/10.4.339 | author2=Peden JF | author3=Lloyd C | display-authors=3 | last4=Horsley | first4=SW | last5=Clark | first5=K | last6=Tufarelli | first6=C | last7=Kearney | first7=L | last8=Buckle | first8=VJ | last9=Doggett | first9=NA | doi-access=free }}
• {{cite journal | author=Kornak U |title=Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man |journal=Cell |volume=104 |issue= 2 |pages= 205–15 |year= 2001 |pmid= 11207362 |doi=10.1016/S0092-8674(01)00206-9 | author2=Kasper D | author3=Bösl MR | display-authors=3 | last4=Kaiser | first4=Edelgard | last5=Schweizer | first5=Michaela | last6=Schulz | first6=Ansgar | last7=Friedrich | first7=Wilhelm | last8=Delling | first8=Günter | last9=Jentsch | first9=Thomas J | doi-access=free }}
• {{cite journal | author=Cleiren E |title=Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene |journal=Hum. Mol. Genet. |volume=10 |issue= 25 |pages= 2861–7 |year= 2002 |pmid= 11741829 |doi=10.1093/hmg/10.25.2861 | author2=Bénichou O | author3=Van Hul E | display-authors=3 | last4=Gram | first4=J | last5=Bollerslev | first5=J | last6=Singer | first6=FR | last7=Beaverson | first7=K | last8=Aledo | first8=A | last9=Whyte | first9=MP | doi-access= }}
• {{cite journal | author=Harada K |title=Aberrant promoter methylation and silencing of the RASSF1A gene in pediatric tumors and cell lines |journal=Oncogene |volume=21 |issue= 27 |pages= 4345–9 |year= 2002 |pmid= 12082624 |doi= 10.1038/sj.onc.1205446 | author2=Toyooka S | author3=Maitra A | display-authors=3 | last4=Maruyama | first4=Riichiroh | last5=Toyooka | first5=Kiyomi O | last6=Timmons | first6=Charles F | last7=Tomlinson | first7=Gail E | last8=Mastrangelo | first8=Domenico | last9=Hay | first9=Robert J |s2cid=26627369 | doi-access= }}
• {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 | author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
• {{cite journal | author=Campos-Xavier AB |title=Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis |journal=Hum. Genet. |volume=112 |issue= 2 |pages= 186–9 |year= 2003 |pmid= 12522560 |doi= 10.1007/s00439-002-0861-9 | author2=Saraiva JM | author3=Ribeiro LM | display-authors=3 | last4=Munnich | first4=A | last5=Cormier-Daire | first5=V |s2cid=33010093 }}
• {{cite journal | author=Waguespack SG |title=Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II |journal=J. Bone Miner. Res. |volume=18 |issue= 8 |pages= 1513–8 |year= 2004 |pmid= 12929941 |doi=10.1359/jbmr.2003.18.8.1513 | author2=Koller DL | author3=White KE | display-authors=3 | last4=Fishburn | first4=Tonya | last5=Carn | first5=Gwenaelle | last6=Buckwalter | first6=Kenneth A | last7=Johnson | first7=Michelle | last8=Kocisko | first8=Maureen | last9=Evans | first9=Wayne E |s2cid=23907779 }}
• {{cite journal | author=Frattini A |title=Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis |journal=J. Bone Miner. Res. |volume=18 |issue= 10 |pages= 1740–7 |year= 2004 |pmid= 14584882 |doi=10.1359/jbmr.2003.18.10.1740 | author2=Pangrazio A | author3=Susani L | display-authors=3 | last4=Sobacchi | first4=Cristina | last5=Mirolo | first5=Massimiliano | last6=Abinun | first6=Mario | last7=Andolina | first7=Marino | last8=Flanagan | first8=Adrienne | last9=Horwitz | first9=Edwin M |s2cid=20966489 | doi-access=free }}
• {{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 | author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }}
• {{cite journal | author=Henriksen K |title=Characterization of Osteoclasts from Patients Harboring a G215R Mutation in ClC-7 Causing Autosomal Dominant Osteopetrosis Type II |journal=Am. J. Pathol. |volume=164 |issue= 5 |pages= 1537–45 |year= 2004 |pmid= 15111300 |doi= 10.1016/S0002-9440(10)63712-1| pmc=1615650 | author2=Gram J | author3=Schaller S | display-authors=3 | last4=Dahl | first4=BH | last5=Dziegiel | first5=MH | last6=Bollerslev | first6=J | last7=Karsdal | first7=MA }}
• {{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 | author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
• {{cite journal | author=Köttgen M |title=Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation |journal=EMBO J. |volume=24 |issue= 4 |pages= 705–16 |year= 2005 |pmid= 15692563 |doi= 10.1038/sj.emboj.7600566 | pmc=549624 | author2=Benzing T | author3=Simmen T | display-authors=3 | last4=Tauber | first4=Robert | last5=Buchholz | first5=Björn | last6=Feliciangeli | first6=Sylvain | last7=Huber | first7=Tobias B | last8=Schermer | first8=Bernhard | last9=Kramer-Zucker | first9=Albrecht }}
• {{cite journal | author=Pettersson U |title=Polymorphisms of the CLCN7 gene are associated with BMD in women |journal=J. Bone Miner. Res. |volume=20 |issue= 11 |pages= 1960–7 |year= 2006 |pmid= 16234969 |doi= 10.1359/JBMR.050717 | author2=Albagha OM | author3=Mirolo M | display-authors=3 | last4=Taranta | first4=Anna | last5=Frattini | first5=Annalisa | last6=McGuigan | first6=Fiona EA | last7=Vezzoni | first7=Paolo | last8=Teti | first8=Anna | last9=Van Hul | first9=Wim |s2cid=22530335 | doi-access=free }}
• {{cite journal | author=Kornak U |title=Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II |journal=J. Clin. Endocrinol. Metab. |volume=91 |issue= 3 |pages= 995–1000 |year= 2006 |pmid= 16368748 |doi= 10.1210/jc.2005-2017 | author2=Ostertag A | author3=Branger S | display-authors=3 | last4=Benichou | first4=O | last5=De Vernejoul | first5=MC |s2cid=25948191 |doi-access= }}
• {{cite journal | author=Olsen JV |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 | author2=Blagoev B | author3=Gnad F | display-authors=3 | last4=Macek | first4=Boris | last5=Kumar | first5=Chanchal | last6=Mortensen | first6=Peter | last7=Mann | first7=Matthias |s2cid=7827573 | doi-access=free}}

{{refend}}

• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=clcn7 GeneReviews/NCBI/NIH/UW entry on CLCN7-Related Osteopetrosis]
• {{MeshName|CLCN7+protein,+human}}
• {{UCSC gene info|CLCN7}}

{{NLM content}}

{{Ion channels|g4}}

Category:Ion channels