H /Cl− 교환 트랜스포터 7이라고도 불리는+ 염화물 채널 7 알파 서브유닛은 CLCN7 [5] 유전자에 의해 인체 내에서 암호화되는 단백질 이다.멜라노사이트 세포에서 이 유전자는 마이크로프탈리아 관련 전사 [6] [7] 인자 에 의해 조절된다.
임상적 의의 CLCN7 유전자의 돌연변이는 [8] 뼈의 희귀 질환인 상염색체 우성 골페트로시스 타입 II와 관련이 있는 것으로 보고되었다.
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레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000103249 - 앙상블 , 2017년 5월 ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000036636 - 앙상블, 2017년 5월 ^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine . ^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine . ^ "Entrez Gene: CLCN7 chloride channel 7" . ^ Meadows NA, Sharma SM, Faulkner GJ, Ostrowski MC, Hume DA, Cassady AI (2007). "The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor" . J. Biol. Chem . 282 (3): 1891–904. doi :10.1074/jbc.M608572200 . PMID 17105730 . ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy" . Pigment Cell Melanoma Res . 21 (6): 665–76. doi :10.1111/j.1755-148X.2008.00505.x . PMID 19067971 . 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외부 링크 이 기사에는 미국 국립 의학 도서관 (미국 국립 의학 도서관 )의 공공 도메인 텍스트가 포함되어 있습니다.