Chloride channel 7 alpha subunit also known as H
+/Cl
− exchange transporter 7 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the CLCN7
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ...
.
In
melanocytic
Melanocytes are melanin-producing neural crest-derived cells located in the bottom layer (the stratum basale) of the skin's epidermis, the middle layer of the eye (the uvea),
the inner ear,
vaginal epithelium, meninges,
bones,
and heart.
Mela ...
cells this gene is regulated by the
Microphthalmia-associated transcription factor
Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the ''MITF'' gene.
MITF is a basic helix-loop-helix leucine zipper transcription fact ...
.
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
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Chloride channel
Chloride channels are a superfamily of poorly understood ion channels specific for chloride. These channels may conduct many different ions, but are named for chloride because its concentration ''in vivo'' is much higher than other anions. Several ...
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on CLCN7-Related Osteopetrosis*
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{{Ion channels, g4
Ion channels