CLCN7

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CLCN7
Identifiers
Aliases CLCN7, CLC-7, CLC7, OPTA2, OPTB4, PPP1R63, chloride voltage-gated channel 7
External IDs MGI: 1347048 HomoloGene: 56546 GeneCards: 1186
RNA expression pattern
PBB GE CLCN7 209235 at tn.png

PBB GE CLCN7 221961 at tn.png

PBB GE CLCN7 38069 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001114331
NM_001287

NM_011930
NM_001317404

RefSeq (protein)

NP_001107803.1
NP_001278.1

NP_036060.1

Location (UCSC) Chr 16: 1.44 – 1.48 Mb Chr 17: 25.13 – 25.16 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/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.[3] In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.[4][5]

Clinical significance[edit]

Mutations in the CLCN7 gene have been reported to be associated with autosomal dominant osteopetrosis type II, a rare disease of bones.[6]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: CLCN7 chloride channel 7". 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ 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. doi:10.1038/labinvest.2013.140. PMID 24336069. 

Further reading[edit]

External links[edit]

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