CLCN7

Template:Short description Template:Cs1 config Template:Infobox gene 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

External links

• GeneReviews/NCBI/NIH/UW entry on CLCN7-Related Osteopetrosis
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• Template:UCSC gene info

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