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IDDAM

Chr 14AD

chromodomain helicase DNA binding protein 8

Also known as: AUTS18, HELSNF1, IDDAM

NCBI Gene: 57680 OMIM: 615032

This gene encodes a chromodomain-helicase-DNA binding protein that functions in transcriptional regulation, epigenetic remodeling, cell proliferation promotion, and RNA synthesis regulation. Mutations cause intellectual developmental disorder with autism and macrocephaly, inherited in an autosomal dominant pattern. The phenotype involves neurodevelopmental impairment with characteristic features of autism spectrum behaviors and increased head circumference.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…