Target intelligence / Profile preview

Chromodomain-helicase-DNA-binding protein 7 (CHD7)

Target
CHD7
Molecular classification
Chromatin remodeler, ATP-dependent helicase, Enzyme, Transcription regulation factor, Chromodomain protein
01

Overview

Chromodomain-helicase-DNA-binding protein 7 (CHD7) is an ATP-dependent chromatin remodeling enzyme belonging to the CHD family, which plays a critical role in regulating chromatin accessibility and epigenomic states at enhancers and promoters[1][2][3]. CHD7 contains chromodomains, a Snf2-like helicase-ATPase domain, and SANT-SLIDE domains, enabling it to recognize histone modifications (such as H3K4me1) and to reposition or slide nucleosomes to regulate gene expression[2][3]. Mutations or haploinsufficiency of CHD7 cause CHARGE syndrome, a severe developmental disorder affecting multiple organ systems, especially the nervous system and cerebellar morphogenesis[1][2]. CHD7 functions primarily by maintaining open, transcriptionally active chromatin at regulatory DNA elements, controlling gene programs essential for tissue and brain development[1][3]. There are currently no known drugs that specifically target CHD7, but its dysfunction is implicated primarily through genetic disruption[2][3].

Other names
CHD7KIAA1416CHD-7FLJ20357FLJ20361ATP-dependent helicase CHD7CRGHH5IS3KAL5CHARGE association
02

Mechanism of action

Drugs targeting CHD7 (if available) would likely inhibit or modulate its ATP-dependent chromatin remodeling activity, altering gene expression at specific loci.

03

Biological functions

Chromatin remodelingEpigenetic regulationRegulation of gene expressionNeural and tissue developmentMaintenance of enhancer and promoter accessibility
04

Disease associations

CHARGE syndromeBrain/cerebellar developmental disordersDevelopmental syndromesOther neurodevelopmental phenotypes
05

Safety considerations

Loss of CHD7 function causes widespread developmental defects (including CHARGE syndrome)High risk of neurological, craniofacial, and cardiac abnormalities if inhibited or mutated
06

Biomarkers

Mutations in CHD7 as a diagnostic biomarker for CHARGE syndromeCHD7 mutation status as a genetic diagnostic marker

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