CHD8 chromodomain helicase DNA binding protein 8 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 57680)
Source: NCBI Gene (ID 57680)
Symbol: CHD8
Full name: chromodomain helicase DNA binding protein 8
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: AUTS18; HELSNF1; IDDAM
Summary: This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
Expression: Ubiquitous expression in thyroid (RPKM 9.5), brain (RPKM 8.8) and 25 other tissues
Orthologs: mouse
Gene size: 70925bp
Exon count: 39