Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor [5] that in humans is encoded by the CHD7 gene.[6][7]
CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet.[8] Mutations in CHD7 are associated with CHARGE syndrome.[9] This protein belongs to a larger group of ATP-dependent chromatin remodeling complexes, the CHD subfamily.
Clinical
Mutations in this gene have been associated with the CHARGE syndrome.
References
Further reading
External links
- CHD7+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human CHD7 genome location and CHD7 gene details page in the UCSC Genome Browser.
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