Protein-coding gene in humans

CHD3

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All data from the card 17

Aliases: CHD3, Mi-2a, Mi2-ALPHA, ZFH, chromodomain helicase DNA binding protein 3, SNIBCPS
External IDs: OMIM: 602120; MGI: 1344395; GeneCards: CHD3
Chr.: Chromosome 17 (human)
Band: 17p13.1
End: 7,912,760 bp
Chr.: Chromosome 11 (mouse)
Band: 11|11 B3
End: 69,260,232 bp
BioGPS: More reference expression data
Databases: NCBI: entry; OMA: entry
Species: Human
Entrez: 1107
Ensembl: ENSG00000170004
UniProt: Q12873
RefSeq (mRNA): NM_001005271NM_001005273NM_005852NM_001272
RefSeq (protein): NP_001005271NP_001005273NP_005843
Location (UCSC): Chr 17: 7.88 – 7.91 Mb

Chromodomain-helicase-DNA-binding protein 3 is an enzyme that in humans is encoded by the CHD3 gene.

Function

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.

Mutations in CHD3 cause a neurodevelopmental syndrome (Snijders Blok-Campeau syndrome) with macrocephaly and impaired speech and language.