Chromodomain-helicase-DNA-binding protein 8 (CHD8)

Chromodomain-helicase-DNA-binding protein 8 (CHD8) is a large, multi-domain ATP-dependent chromatin remodeling enzyme that modulates DNA accessibility by repositioning nucleosomes, thereby influencing the transcription of numerous genes[1][2][3][4][5][6]. CHD8 is encoded by the CHD8 gene and is highly expressed in the developing brain, where it is critical for the proliferation and differentiation of neural progenitor cells, regulation of neuron numbers, and neurodevelopmental processes[1][4][6]. CHD8 can function as both a transcriptional activator and repressor, depending on local genomic and cellular context, and directly interacts with gene promoters, recruiting or excluding chromatin modifiers and transcription factors including β-catenin and p53[1][2][3][5]. CHD8 also impacts Wnt signaling, histone H1 recruitment, and cell cycle G1/S-phase genes such as CCNE2 and TYMS[1][7]. Mutations in CHD8 are among the most frequently identified genetic causes of autism spectrum disorder, defining a subset of the disorder with characteristic features[4][6]. Complete loss of CHD8 is embryonic lethal in animals, reflecting its essential biological functions[1][4]. No approved drugs specifically antagonize or activate CHD8 as of now.

Other names

CHD8HELSNF1KIAA1564CHD-8DUPLINATP-dependent helicase CHD8Helicase with SNF2 domain 1AUTS18IDDAMaxis duplication inhibitorduplin