DHX9

Chr 1

DExH-box helicase 9

Also known as: DDX9, LKP, MRD75, NDH2, NDHII, RHA

NCBI Gene: 1660 ENSG00000135829 UniProt: Q08211

The DHX9 protein is an ATP-dependent helicase that unwinds double-stranded RNA and DNA-RNA complexes and functions as a transcriptional regulator involved in DNA replication, RNA processing, and gene expression. Mutations cause autosomal dominant intellectual developmental disorder. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.105), indicating that even heterozygous loss is likely to be pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal dominant 75

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.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

0.10

LOEUF· LoF intol.

LOF

Mechanism· G2P

Some data sources returned errors (1)

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