DDX60L

Chr 4

DExD/H-box 60 like

NCBI Gene: 91351 ENSG00000181381 UniProt: Q5H9U9 OMIM: 616725

This gene encodes a DExD/H-box helicase that binds and unwinds RNA, hydrolyzes ATP, and functions as a cytosolic sensor of viral nucleic acids to inhibit viral replication as part of antiviral immunity. The gene is extremely tolerant to loss-of-function variants, but no specific disease associations have been established for DDX60L mutations. Inheritance pattern cannot be determined without identified pathogenic variants and associated phenotypes.

OMIM ResearchSummary from RefSeq

This gene encodes a member of the DExD/H-box helicase family of proteins, a subset of the super family 2 helicases. Members of the DExD/H-box helicase family share a conserved functional core comprised of two RecA-like globular domains. These domains contain conserved motifs that mediate ATP binding, ATP hydrolysis, nucleic acid binding, and RNA unwinding. In addition to functions in RNA metabolism, members of this family are involved in anti-viral immunity and act as cytosolic sensors of viral nucleic acids. The protein encoded by this gene has been shown to inhibit hepatitis C virus replication in response to interferon stimulation in cell culture. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.00

LOEUF

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Mechanism