CHD3

Chr 17

chromodomain helicase DNA binding protein 3

Also known as: Mi-2a, Mi2-ALPHA, SNIBCPS, ZFH

NCBI Gene: 1107 ENSG00000170004 UniProt: Q12873

This protein functions as a component of the Mi-2/NuRD complex, which remodels chromatin by deacetylating histones and is essential for transcriptional regulation. Loss-of-function mutations cause Snijders Blok-Campeau syndrome through an autosomal dominant inheritance pattern. The gene is highly intolerant to loss-of-function variants, consistent with haploinsufficiency as the pathogenic mechanism.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSnijders Blok-Campeau syndrome

Clinical highlights

Gene-disease validity (ClinGen)

Snijders Blok-Campeau syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.15

LOEUF· LoF intol.

LOF

Mechanism· predicted

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