CLCN7

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Chloride channel, voltage-sensitive 7
Identifiers
Symbols CLCN7 ; CLC-7; CLC7; OPTA2; OPTB4; PPP1R63
External IDs OMIM602727 MGI1347048 HomoloGene56546 IUPHAR: ClC-7 GeneCards: CLCN7 Gene
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 1186 26373
Ensembl ENSG00000103249 ENSMUSG00000036636
UniProt P51798 O70496
RefSeq (mRNA) NM_001114331 NM_011930
RefSeq (protein) NP_001107803 NP_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[edit]

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[edit]

References[edit]

  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. doi:10.1074/jbc.M608572200. PMID 17105730. 
  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. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  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. 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.