Full name: chromodomain helicase DNA binding protein 8

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: 5830451P18Rik; Chd-8; Duplin; HELSNF1; mKIAA1564

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 is common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. In mammals, this gene has been shown to function in several processes including transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Knockout of this gene causes early embryonic lethality due to widespread apoptosis. Heterozygous loss of function mutations result in autism spectrum disorder-like behaviors that include increased anxiety, repetitive behavior, and altered social behavior. [provided by RefSeq, Dec 2016]

Expression: Ubiquitous expression in CNS E11.5 (RPKM 11.5), thymus adult (RPKM 10.3) and 28 other tissues

Gene size: 59892bp

Exon count: 38