Chromodomain Helicase DNA-Binding Protein 8

Alternative Names

  • CHD8
  • Axis Duplication Inhibitor
  • DUPLIN
  • KIAA1564
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OMIM Number

610528

Gene Map Locus
14q11.2

Description

The CHD8 gene encodes an ATP-dependent helicase enzyme that regulates gene transcription. It carries out its function by remodeling chromatin structure and recruiting histone H1 to target genes. The enzyme thus plays a role in the negative regulation of the Wnt signaling pathway and the fibroblast apoptotic process, and is an important factor in embryonic development, especially the development of the brain and digestive tract.   

Mutations in the gene have been associated with susceptibility to Autism 18 (AUTS18), a subset of the Autism Spectrum disorder, wherein affected individuals exhibit macrocephaly, intellectual disability and gastrointestinal manifestations.

Molecular Genetics

The CHD8 gene is located on the long arm of chromosome 14. It spans a length of 70.9 kb of DNA and its coding sequence is spread across 39 exons. The protein product encoded by this gene has a molecular mass of 290.5 kDa and consists of 2581 amino acids. An additional 262 kDa isoform of the CHD8 protein exists due to alternative splicing. The gene is ubiquitously expressed in the human body. More than 30 CHD8 gene mutations have been associated with autism spectrum disorder, including indels, splice site variants and nonsense mutations.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001170629.2:c.4984C>TSaudi ArabiaNC_000014.9:g.21397890G>APathogenicLikely PathogenicIntellectual Developmental Disorder with Autism and MacrocephalyNG_021249.2:g.63233C>T; NM_001170629.2:c.4984C>T; NP_001164100.1:p.Arg1662Ter15553139341029213
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