CHD3
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Chromodomain-helicase-DNA-binding protein 3 is an enzyme that in humans is encoded by the CHD3 gene.[1][2][3]
Function
[edit | edit source]This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described.[3]
Mutations in CHD3 cause a neurodevelopmental syndrome (Snijders Blok-Campeau syndrome) with macrocephaly and impaired speech and language.[4]
Interactions
[edit | edit source]CHD3 has been shown to interact with:
References
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External links
[edit | edit source]- Human CHD3 genome location and CHD3 gene details page in the UCSC Genome Browser.
Further reading
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