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GeneQ15311448· pop 8· linked from 73 articles

Also known as CRG, HH5, IS3, KAL5, chromodomain helicase DNA binding protein 7

Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor that in humans is encoded by the CHD7 gene.

Gene data

CHD7
Name
chromodomain helicase DNA binding protein 7
Type
protein-coding
Aliases
CRG, HH5, IS3, KAL5

This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015].

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Gene · Ensembl

chromodomain helicase DNA binding protein 7

Symbol
CHD7
Biotype
Protein coding
Organism
Homo sapiens
Location
8:60,678,715-60,868,031
Strand
Forward (+)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image
PDB 2ckc EBI.png
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HomoloGene ID
19067
genomic start
60678740
genomic end
61779465
cytogenetic location
8q12.2
Commons category
Chromodomain-helicase-DNA-binding protein 7
Sources (4)

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Article

4 sections
Contents
  • Clinical
  • References
  • Further reading
  • External links

Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor that in humans is encoded by the CHD7 gene.

CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet. Mutations in CHD7 are associated with CHARGE syndrome. This protein belongs to a larger group of ATP-dependent chromatin remodeling complexes, the CHD subfamily.

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