{{위키데이터 속성 추적}}
{{유전자 정보}}
'''염화 이온 채널 7 알파 서브 유닛'''(Chloride Channel 7 Alpha Subunit) 또는 '''H<sup>+</sup>/Cl<sup>-</sup> 교환 수송체 7'''은 인간의 CLCN7에 의해 암호화되는 유전자에서 발현되는 단백질이다.<ref name="entrez">{{웹 인용|url=https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1186|제목=Entrez Gene: CLCN7 chloride channel 7|확인날짜=}}</ref> 멜라노사이트 세포에서 이 유전자는 작은 안구증 연관 전사 요소에 의해 조절된다.<ref name="pmid17105730">{{저널 인용|제목=The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor|저널=J. Biol. Chem.|연도=2007|권=282|호=3|쪽=1891–904|doi=10.1074/jbc.M608572200|pmid=17105730}}</ref><ref name="pmid19067971">{{저널 인용|제목=Novel MITF targets identified using a two-step DNA microarray strategy|저널=Pigment Cell Melanoma Res|연도=2008|권=21|호=6|쪽=665–76|doi=10.1111/j.1755-148X.2008.00505.x|pmid=19067971}}</ref>

== 임상적 의의 ==
CLCN7 유전자의 돌연변이는 뼈의 희귀병인 상염색체 우성 골수증 2형과 관련이 있는 것으로 보고되었다.<ref name="pmid24336069">{{저널 인용|제목=Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology|저널=Lab. Invest.|url=https://hal.archives-ouvertes.fr/hal-01511438/file/labinvest2013AEC.pdf|연도=2014|권=94|호=3|쪽=275–85|doi=10.1038/labinvest.2013.140|pmid=24336069}}</ref>

== 참고 ==

* 염화 이온 채널

== 각주 ==
{{각주}}
{{참고 자료 시작|2}}
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*{{저널 인용|제목=Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene|저널=Hum. Mol. Genet.|성=Cleiren E|성2=Bénichou O|연도=2002|권=10|호=25|쪽=2861–7|doi=10.1093/hmg/10.25.2861|pmid=11741829|저자표시=3|성3=Van Hul E|성4=Gram|이름4=J|성5=Bollerslev|이름5=J|성6=Singer|이름6=FR|성7=Beaverson|이름7=K|성8=Aledo|이름8=A|성9=Whyte|이름9=MP}}
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*{{저널 인용|제목=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences|저널=Proc. Natl. Acad. Sci. U.S.A.|성=Strausberg RL|성2=Feingold EA|연도=2003|권=99|호=26|쪽=16899–903|doi=10.1073/pnas.242603899|pmc=139241|pmid=12477932|저자표시=3|성3=Grouse LH|성4=Derge|이름4=JG|성5=Klausner|이름5=RD|성6=Collins|이름6=FS|성7=Wagner|이름7=L|성8=Shenmen|이름8=CM|성9=Schuler|이름9=GD}}
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{{참고 자료 끝}}

[[분류:이온 통로]]
[[분류:인간 16번 염색체상 유전자]]