CLCN7

Jump to: navigation, search
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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. 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

External links

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


Linked-in.jpg