CLCN7

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CLCN7
Identifiers
AliasesCLCN7, CLC-7, CLC7, OPTA2, OPTB4, PPP1R63, chloride voltage-gated channel 7, HOD
External IDsOMIM: 602727 MGI: 1347048 HomoloGene: 56546 GeneCards: CLCN7
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001114331
NM_001287

NM_011930
NM_001317404

RefSeq (protein)

NP_001107803
NP_001278

NP_001304333
NP_036060

Location (UCSC)Chr 16: 1.44 – 1.48 MbChr 17: 25.35 – 25.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5] In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.[6][7]

Clinical significance

Mutations in the CLCN7 gene have been reported to be associated with autosomal dominant osteopetrosis type II, a rare disease of bones.[8]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000103249 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036636 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: CLCN7 chloride channel 7".
  6. ^ 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.
  7. ^ 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. S2CID 24698373.
  8. ^ 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" (PDF). Lab. Invest. 94 (3): 275–85. doi:10.1038/labinvest.2013.140. PMID 24336069. S2CID 5097233.

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.