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Protein-coding gene in the species Homo sapiens
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 .[ 5] melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor .[ 6] [ 7]
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.[ 8]
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This article incorporates text from the United States National Library of Medicine , which is in the public domain .
