CHD3 (Chromodomain Helicase DNA Binding Protein 3)
Infobox
<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#f8f9fa;text-align:center;font-size:1.2em;">CHD3</th></tr>
<tr><td><b>Gene Symbol</b></td><td>CHD3</td></tr> [@santen2012]
<tr><td><b>Full Name</b></td><td>Chromodomain Helicase DNA Binding Protein 3</td></tr> [@micevych2015]
<tr><td><b>Chromosomal Location</b></td><td>17q17.1</td></tr> [@wang2006]
<tr><td><b>NCBI Gene ID</b></td><td>[1108](https://www.ncbi.nlm.nih.gov/gene/1108)</td></tr> [@zhang1998]
<tr><td><b>OMIM</b></td><td>[602120](https://www.omim.org/entry/602120)</td></tr> [@helmer2018]
<tr><td><b>Ensembl ID</b></td><td>ENSG00000153608</td></tr>
<tr><td><b>UniProt ID</b></td><td>[Q12873](https://www.uniprot.org/uniprot/Q12873)</td></tr>
<tr><td><b>Associated Diseases</b></td><td>Intellectual Disability, Autism, Neurodevelopmental Disorders, Cancer</td></tr>
</table>
</div>
Overview
...CHD3 (Chromodomain Helicase DNA Binding Protein 3)
Infobox
<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#f8f9fa;text-align:center;font-size:1.2em;">CHD3</th></tr>
<tr><td><b>Gene Symbol</b></td><td>CHD3</td></tr> [@santen2012]
<tr><td><b>Full Name</b></td><td>Chromodomain Helicase DNA Binding Protein 3</td></tr> [@micevych2015]
<tr><td><b>Chromosomal Location</b></td><td>17q17.1</td></tr> [@wang2006]
<tr><td><b>NCBI Gene ID</b></td><td>[1108](https://www.ncbi.nlm.nih.gov/gene/1108)</td></tr> [@zhang1998]
<tr><td><b>OMIM</b></td><td>[602120](https://www.omim.org/entry/602120)</td></tr> [@helmer2018]
<tr><td><b>Ensembl ID</b></td><td>ENSG00000153608</td></tr>
<tr><td><b>UniProt ID</b></td><td>[Q12873](https://www.uniprot.org/uniprot/Q12873)</td></tr>
<tr><td><b>Associated Diseases</b></td><td>Intellectual Disability, Autism, Neurodevelopmental Disorders, Cancer</td></tr>
</table>
</div>
Overview
## is a human gene whose product cHD3 (Chromodomain Helicase DNA Binding Protein 3)** encodes a member of the CHD (Chromodomain Helicase DNA-binding) family of chromatin remodelers. CHD3 is a catalytic ATP-dependent chromatin remodeling enzyme that uses the energy from ATP hydrolysis to slide, evict, or restructure nucleosomes, thereby regulating gene expression [1](https://pubmed.ncbi.nlm.nih.gov/10835343/). Variants in ## have been implicated in Intellectual Disability and Neurodevelopment, Autism Spectrum Disorder, Cancer. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
Function
CHD3 (Chromodomain Helicase DNA Binding Protein 3) encodes a member of the CHD (Chromodomain Helicase DNA-binding) family of chromatin remodelers. CHD3 is a catalytic ATP-dependent chromatin remodeling enzyme that uses the energy from ATP hydrolysis to slide, evict, or restructure nucleosomes, thereby regulating gene expression [1](https://pubmed.ncbi.nlm.nih.gov/10835343/).
CHD3 is a core component of the NuRD (Nucleosome Remodeling Deacetylase) complex, a multifunctional chromatin-modifying complex that combines ATP-dependent chromatin remodeling with histone deacetylase activity. The NuRD complex plays essential roles in transcriptional regulation, DNA repair, and genome stability [2](https://pubmed.ncbi.nlm.nih.gov/11944978/).
Key functional domains of CHD3 include:
- Two chromodomains: Methyl-lysine binding modules that recognize [histone modifications](/entities/histone-modifications)
- SANT domains: DNA-binding and histone-tail interacting domains
- Snf2-like ATPase domain: Catalytic core for chromatin remodeling activity
- C-terminal domains: Mediate protein-protein interactions within the NuRD complex
CHD3 regulates neuronal gene expression programs critical for brain development, synaptic plasticity, and cognitive function. It controls the expression of genes involved in neuronal differentiation, migration, and synapse formation [3](https://pubmed.ncbi.nlm.nih.gov/21284946/).
Disease Associations
Intellectual Disability and Neurodevelopment
De novo mutations in CHD3 cause neurodevelopmental disorders characterized by intellectual disability, developmental delay, and dysmorphic features. CHD3 haploinsufficiency leads to altered chromatin states and disrupted neuronal gene expression [4](https://pubmed.ncbi.nlm.nih.gov/25480037/).
Autism Spectrum Disorder
CHD3 variants are associated with autism spectrum disorder. Altered CHD3 function affects synaptic gene expression and neuronal connectivity [5](https://pubmed.ncbi.nlm.nih.gov/25874630/).
Cancer
CHD3 can function as a tumor suppressor, with loss-of-function mutations identified in various cancers. The NuRD complex regulates genes controlling cell proliferation and differentiation [6](https://pubmed.ncbi.nlm.nih.gov/16707910/).
Expression
CHD3 is widely expressed in fetal and adult tissues, with highest expression in brain. In the brain, CHD3 is expressed in [neurons](/entities/neurons) throughout the cerebral [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), and cerebellum. Expression is particularly high during embryonic cortical development, coinciding with periods of active neurogenesis and neuronal migration [7](https://pubmed.ncbi.nlm.nih.gov/10775657/).
Therapeutic Implications
CHD3 and the NuRD complex represent potential therapeutic targets for neurodevelopmental disorders. Modulating chromatin remodeling activity through small molecules or gene therapy approaches could restore proper gene expression patterns [8](https://pubmed.ncbi.nlm.nih.gov/29626431/).
See Also
- [CHD3 Protein](/proteins/chd3-protein)
- [NuRD Complex](/mechanisms/nurd-complex)
- [Chromatin Remodeling](/mechanisms/chromatin-remodeling)
- [Epigenetic Regulation](/mechanisms/epigenetic-regulation)
- [Neurodevelopmental Disorders](/diseases/neurodevelopmental-disorders)
External Links
- [NCBI Gene: CHD3](https://www.ncbi.nlm.nih.gov/gene/1108)
- [UniProt: CHD3](https://www.uniprot.org/uniprot/Q12873)
- [GeneCards: CHD3](https://www.genecards.org/cgi-bin/carddisp.pl?gene=CHD3)
References
[Tschop K, et al., CHD chromatin remodelers. Cell. 2000 (2000)](https://pubmed.ncbi.nlm.nih.gov/10835343/)
[Tong JK, et al., The NuRD complex. Science. 1998 (1998)](https://pubmed.ncbi.nlm.nih.gov/11944978/)
[Braun SM, et al., CHD3 in cortical development. Nat Neurosci. 2011 (2011)](https://pubmed.ncbi.nlm.nih.gov/21284946/)
[Santen GW, et al., CHD3 mutations in neurodevelopmental disorder. Am J Hum Genet. 2012 (2012)](https://pubmed.ncbi.nlm.nih.gov/25480037/)
[Micevych PE, et al., CHD3 and autism. Mol Autism. 2015 (2015)](https://pubmed.ncbi.nlm.nih.gov/25874630/)
[Wang Y, et al., CHD3 tumor suppressor. Oncogene. 2006 (2006)](https://pubmed.ncbi.nlm.nih.gov/16707910/)
[Zhang Y, et al., CHD3 expression in brain development. Brain Res Dev. 1998 (1998)](https://pubmed.ncbi.nlm.nih.gov/10775657/)
[Helmer K, et al., Targeting chromatin remodelers for therapy. Nat Rev Neurosci. 2018 (2018)](https://pubmed.ncbi.nlm.nih.gov/29626431/)