DDX60

Chr 4

DExD/H-box helicase 60

NCBI Gene: 55601 ENSG00000137628 UniProt: Q8IY21 OMIM: 613974

This gene encodes a DEXD/H box RNA helicase that binds single-stranded RNA, double-stranded RNA, and double-stranded DNA to positively regulate RIG-I and MDA5-dependent type I interferon signaling in antiviral responses. The gene is highly constrained against loss-of-function variants (LOEUF 0.586), but no Mendelian diseases have been definitively associated with DDX60 mutations to date. More research is needed to establish potential clinical phenotypes resulting from pathogenic variants in this gene.

OMIM ResearchSummary from RefSeq, UniProt

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular procsses involving RNA binding and alteration of RNA secondary structure. This gene encodes a DEXD/H box RNA helicase that functions as an antiviral factor and promotes RIG-I-like receptor-mediated signaling. [provided by RefSeq, Apr 2017]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.59

LOEUF

Mechanism· predicted