CLCN7
CLCN7 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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식별자 | |||||||||||||||||||||||||||||||||||||||||||||||||||
다른 이름 | CLCN7, CLC-7, CLC7, OPTA2, OPTB4, PPP1R63, chloride voltage-gated channel 7, HOD | ||||||||||||||||||||||||||||||||||||||||||||||||||
외부 ID | OMIM: 602727 MGI: 1347048 HomoloGene: 56546 GeneCards: CLCN7 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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위키데이터 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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염화 이온 채널 7 알파 서브 유닛(Chloride Channel 7 Alpha Subunit) 또는 H+/Cl- 교환 수송체 7은 인간의 CLCN7에 의해 암호화되는 유전자에서 발현되는 단백질이다.[5] 멜라노사이트 세포에서 이 유전자는 작은 안구증 연관 전사 요소에 의해 조절된다.[6][7]
임상적 의의
CLCN7 유전자의 돌연변이는 뼈의 희귀병인 상염색체 우성 골수증 2형과 관련이 있는 것으로 보고되었다.[8]
참고
- 염화 이온 채널
각주
- ↑ 가 나 다 GRCh38: Ensembl release 89: ENSG00000103249 - 앙상블, May 2017
- ↑ 가 나 다 GRCm38: Ensembl release 89: ENSMUSG00000036636 - 앙상블, May 2017
- ↑ “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”.
- ↑ “The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor”. 《J. Biol. Chem.》 282 (3): 1891–904. 2007. doi:10.1074/jbc.M608572200. PMID 17105730.
- ↑ “Novel MITF targets identified using a two-step DNA microarray strategy”. 《Pigment Cell Melanoma Res》 21 (6): 665–76. 2008. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
- ↑ “Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology” (PDF). 《Lab. Invest.》 94 (3): 275–85. 2014. doi:10.1038/labinvest.2013.140. PMID 24336069.
- “ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family”. 《FEBS Lett.》 377 (1): 15–20. 1996. doi:10.1016/0014-5793(95)01298-2. PMID 8543009.
- Héon E; Piguet B; Munier F; 외. (1996). “Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21”. 《Arch. Ophthalmol.》 114 (2): 193–8. doi:10.1001/archopht.1996.01100130187014. PMID 8573024.
- “The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression”. 《Genomics》 33 (1): 151–2. 1996. doi:10.1006/geno.1996.0177. PMID 8617505.
- Eggermont J (1998). “The exon-intron architecture of human chloride channel genes is not conserved”. 《Biochim. Biophys. Acta》 1397 (2): 156–60. doi:10.1016/s0167-4781(98)00014-1. PMID 9565675.
- White KE; Koller DL; Takacs I; 외. (1999). “Locus heterogeneity of autosomal dominant osteopetrosis (ADO)”. 《J. Clin. Endocrinol. Metab.》 84 (3): 1047–51. doi:10.1210/jc.84.3.1047. PMID 10084593.
- Daniels RJ; Peden JF; Lloyd C; 외. (2001). “Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16”. 《Hum. Mol. Genet.》 10 (4): 339–52. doi:10.1093/hmg/10.4.339. PMID 11157797.
- Kornak U; Kasper D; Bösl MR; 외. (2001). “Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man”. 《Cell》 104 (2): 205–15. doi:10.1016/S0092-8674(01)00206-9. PMID 11207362.
- Cleiren E; Bénichou O; Van Hul E; 외. (2002). “Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene”. 《Hum. Mol. Genet.》 10 (25): 2861–7. doi:10.1093/hmg/10.25.2861. PMID 11741829.
- Harada K; Toyooka S; Maitra A; 외. (2002). “Aberrant promoter methylation and silencing of the RASSF1A gene in pediatric tumors and cell lines”. 《Oncogene》 21 (27): 4345–9. doi:10.1038/sj.onc.1205446. PMID 12082624.
- Strausberg RL; Feingold EA; Grouse LH; 외. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences”. 《Proc. Natl. Acad. Sci. U.S.A.》 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Campos-Xavier AB; Saraiva JM; Ribeiro LM; 외. (2003). “Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis”. 《Hum. Genet.》 112 (2): 186–9. doi:10.1007/s00439-002-0861-9. PMID 12522560.
- Waguespack SG; Koller DL; White KE; 외. (2004). “Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II”. 《J. Bone Miner. Res.》 18 (8): 1513–8. doi:10.1359/jbmr.2003.18.8.1513. PMID 12929941.
- Frattini A; Pangrazio A; Susani L; 외. (2004). “Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis”. 《J. Bone Miner. Res.》 18 (10): 1740–7. doi:10.1359/jbmr.2003.18.10.1740. PMID 14584882.
- Ota T; Suzuki Y; Nishikawa T; 외. (2004). “Complete sequencing and characterization of 21,243 full-length human cDNAs”. 《Nat. Genet.》 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Henriksen K; Gram J; Schaller S; 외. (2004). “Characterization of Osteoclasts from Patients Harboring a G215R Mutation in ClC-7 Causing Autosomal Dominant Osteopetrosis Type II”. 《Am. J. Pathol.》 164 (5): 1537–45. doi:10.1016/S0002-9440(10)63712-1. PMC 1615650. PMID 15111300.
- Gerhard DS; Wagner L; Feingold EA; 외. (2004). “The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)”. 《Genome Res.》 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Köttgen M; Benzing T; Simmen T; 외. (2005). “Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation”. 《EMBO J.》 24 (4): 705–16. doi:10.1038/sj.emboj.7600566. PMC 549624. PMID 15692563.
- Pettersson U; Albagha OM; Mirolo M; 외. (2006). “Polymorphisms of the CLCN7 gene are associated with BMD in women”. 《J. Bone Miner. Res.》 20 (11): 1960–7. doi:10.1359/JBMR.050717. PMID 16234969.
- Kornak U; Ostertag A; Branger S; 외. (2006). “Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II”. 《J. Clin. Endocrinol. Metab.》 91 (3): 995–1000. doi:10.1210/jc.2005-2017. PMID 16368748.
- Olsen JV; Blagoev B; Gnad F; 외. (2006). “Global, in vivo, and site-specific phosphorylation dynamics in signaling networks”. 《Cell》 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.