Gene: CHD3

Alternate names for this Gene: Mi-2a|Mi2-ALPHA|SNIBCPS|ZFH

Gene Summary: This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: chromodomain helicase DNA binding protein 3

Type of Gene: protein-coding

rs9899375 in CHD3 gene and Cerebrovascular accident PMID 26089329 2015 Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.

rs9899375 in CHD3 gene and Ischemic stroke PMID 26089329 2015 Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.

rs28441558 in CHD3 gene and Prostate carcinoma PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

rs1555611722 in CHD3 gene and SNIJDERS BLOK-CAMPEAU SYNDROME PMID 30397230 2018 CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

PMID 29463886 2019 A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.