Structure
Chromodomain-helicase-DNA-binding protein 8 (CHD8) encodes an ATP-dependent DNA helicase located on chromosome 14q11.2 in humans. Two human isoforms of CHD8 are produced by alternative splicing, with the canonical sequence spanning 2581 amino acids and 39 exons. CHD8, originally termed Duplin upon its initial discovery, (Sakamoto et al. 2000) is a member of the chromodomain-helicase-DNA-binding protein family. The CHD family is characterized by the SNF-2-like ATPase and two chromodomains (chromatin organization modifier) (Marfella and Imbalzano 2007). Within this protein family, nine genes are organized into three subfamilies according to the presence or absence of specific functional domains. CHD8 bears most functional and structural similarity to CHD7 and CHD9, all of which exhibit a DNA-binding domain as well as a BRK domain located at the C-terminus. Conservation of CHD8 is evident across a diverse array of species including...
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Oliphant, M., Fernandez, T. (2017). CHD8. In: Volkmar, F. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6435-8_102154-1
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DOI: https://doi.org/10.1007/978-1-4614-6435-8_102154-1
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