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Open Access Articles- Top Results for CLCN7

CLCN7

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Identifiers
SymbolsCLCN7 ; CLC-7; CLC7; OPTA2; OPTB4; PPP1R63
External IDsOMIM602727 MGI1347048 HomoloGene56546 IUPHAR: 706 GeneCards: CLCN7 Gene
RNA expression pattern
File:PBB GE CLCN7 209235 at tn.png
File:PBB GE CLCN7 221961 at tn.png
File:PBB GE CLCN7 38069 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez118626373
EnsemblENSG00000103249ENSMUSG00000036636
UniProtP51798O70496
RefSeq (mRNA)NM_001114331NM_011930
RefSeq (protein)NP_001107803NP_036060
Location (UCSC)Chr 16:
1.49 – 1.53 Mb
Chr 17:
25.13 – 25.16 Mb
PubMed search[1][2]

Chloride channel 7 alpha subunit also known as H+/Cl exchange transporter 7 is a protein that in humans is encoded by the CLCN7 gene.[1] In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.[2][3]

Clinical significance

Mutations in the CLCN7 gene have been reported to be associated with autosomal dominant osteopetrosis type II, a rare disease of bones.[4]

See also

References

  1. ^ "Entrez Gene: CLCN7 chloride channel 7". 
  2. ^ 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. PMID 17105730. doi:10.1074/jbc.M608572200. 
  3. ^ 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. PMID 19067971. doi:10.1111/j.1755-148X.2008.00505.x. 
  4. ^ Coudert AE, Del Fattore A, Baulard C, Olaso R, Schiltz C, Collet C, Teti A, de Vernejoul MC (2014). "Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology". Lab. Invest. 94 (3): 275–85. PMID 24336069. doi:10.1038/labinvest.2013.140. 

Further reading

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External links

Template:Gene-16-stub This article incorporates text from the United States National Library of Medicine, which is in the public domain.