TNFRSF10A

Chr 8

TNF receptor superfamily member 10a

Also known as: APO2, CD261, DR4, TRAILR-1, TRAILR1

NCBI Gene: 8797 ENSG00000104689 UniProt: O00220

The protein functions as a death receptor that binds TNFSF10/TRAIL ligand and initiates apoptosis through caspase-8 activation and formation of the death-inducing signaling complex. Mutations cause autosomal dominant aplastic anemia and immunodeficiency syndrome characterized by bone marrow failure, recurrent infections, and variable immune system dysfunction. This gene shows very low constraint against loss-of-function variants (high LOEUF score), suggesting tolerance to protein disruption in the general population.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.56

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)