CLCN7

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. In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.

Clinical significance

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

See also

  • Chloride channel
  • References

    Further reading

    External links

  • GeneReviews/NCBI/NIH/UW entry on CLCN7-Related Osteopetrosis
  • CLCN7 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
  • This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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