Target intelligence / Profile preview

Chromodomain-helicase-DNA-binding protein 3 (CHD3)

Target
CHD3
Molecular classification
Chromatin remodeler (CHD family), Enzyme (ATP-dependent DNA helicase), Epigenetic regulator, Component of the nucleosome remodeling and deacetylase (NuRD) complex
01

Overview

Chromodomain-helicase-DNA-binding protein 3 (CHD3) is an ATP-dependent DNA helicase and chromatin remodeler encoded by the CHD3 gene in humans[1][5]. Belonging to the CHD protein family, CHD3 contains chromodomains and ATPase/helicase domains, enabling it to use the energy from ATP hydrolysis to reposition nucleosomes and regulate chromatin structure[1][2][3][7]. As a core component of the NuRD complex, CHD3 plays a critical role in histone deacetylation, transcriptional repression, and developmental gene expression control[2][3]. CHD3 is essential for cell fate determination, embryonic development, and neurodevelopmental processes. Mutations in CHD3 lead to Snijders Blok-Campeau syndrome, characterized by intellectual disability, developmental delays, and distinctive facial features[3][4][5]. CHD3 is also the Mi-2 autoantigen recognized in some cases of dermatomyositis[1]. There are no known approved drugs that directly target CHD3, and genetic alteration of its function may result in unpredictable and potentially severe developmental consequences[3][5].

Other names
Chromodomain helicase DNA binding protein 3CHD-3hZFHMi-2aZFHMi2-alphaMi2-ALPHAATP-dependent helicase CHD3Mi-2 autoantigen 240 kDa proteinZinc finger helicaseSNIBCPSchromodomain-helicase-DNA-binding protein 3
02

Biological functions

Chromatin remodelingRegulation of gene expressionCell differentiation (cell fate determination)Maintenance of DNA structure and integrityCell cycle progressionNeural development
03

Disease associations

Neurodevelopmental disorder (Snijders Blok-Campeau syndrome)Intellectual disability and speech/language deficitsAutoimmune disease (Mi-2 autoantigen in dermatomyositis)Potential role in cancer (dysregulated chromatin remodeling)
04

Safety considerations

Genetic targeting/intervention may disrupt chromatin structure or gene expression during developmentRisk of neurodevelopmental effects if function is alteredAutoimmunity (anti-Mi-2 autoantibodies)
05

Biomarkers

Presence of anti-Mi-2 autoantibodies (in dermatomyositis patients)Mutations in CHD3 gene (marker for Snijders Blok-Campeau syndrome)

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