DDX27

Chr 20

DEAD-box helicase 27

Also known as: DRS1, Drs1p, HSPC259, PP3241, RHLP, dJ686N3.1

NCBI Gene: 55661 ENSG00000124228 UniProt: Q96GQ7

The DDX27 protein is an ATP-dependent RNA helicase that localizes to the nucleolus and regulates ribosomal RNA processing, specifically ensuring proper 3' end formation of 47S rRNA as part of the ribosome assembly machinery. Mutations cause autosomal recessive intellectual disability with microcephaly and growth retardation. The gene shows moderate intolerance to loss-of-function variants (LOEUF 0.364), consistent with its essential role in ribosome biogenesis.

ResearchSummary from RefSeq, UniProt

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3' end formation of 47S rRNA. [provided by RefSeq, Jan 2017]

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

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.36

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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