CLCN7
From Infogalactic: the planetary knowledge core
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). 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
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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.
