CHD9

Chr 16

chromodomain helicase DNA binding protein 9

Also known as: AD013, CHD-9, CReMM, KISH2, PRIC320

NCBI Gene: 80205 ENSG00000177200 UniProt: Q3L8U1 OMIM: 616936

CHD9 encodes an ATP-dependent chromatin remodeling factor that acts as a transcriptional coactivator and binds to A/T-rich DNA regulatory regions, particularly in genes involved in osteogenic differentiation. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability, often accompanied by skeletal abnormalities and growth defects. This gene is highly constrained against loss-of-function variants in the population, indicating that such mutations are likely to be pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and DNA helicase activity. Predicted to be involved in chromatin organization. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

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.Based on population constraint only.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

LOF

Mechanism· predicted