CHD7

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Protein-coding gene in humans

title: "CHD7" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public tags: ["genes-mutated-in-mice"] description: "Protein-coding gene in humans" topic_path: "general/genes-mutated-in-mice" source: "https://en.wikipedia.org/wiki/CHD7" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Protein-coding gene in humans ::

Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor that in humans is encoded by the CHD7 gene.

CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet. Mutations in CHD7 are associated with CHARGE syndrome. 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

References

  1. (20 November 2012). "Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders.". Proceedings of the National Academy of Sciences of the United States of America.
  2. (Feb 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research.
  3. "Entrez Gene: chromodomain helicase DNA binding protein 7".
  4. (Feb 2010). "CHD7 cooperates with PBAF to control multipotent neural crest formation". Nature.
  5. (Sep 2004). "Mutations in a new member of the chromodomain gene family cause CHARGE syndrome". Nature Genetics.
  6. (February 2006). "Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation". American Journal of Human Genetics.
  7. (March 2010). "Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome". American Journal of Medical Genetics Part A.

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