This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
Pathway
Cytosolic DNA-sensing pathway; Cytosolic sensors of pathogen-associated DNA; IRF3-mediated induction of type I IFN; Immune System; Innate Immune System; Regulation by TREX1; Regulation of innate immune responses to cytosolic DNA; STING mediated induction of host immune responses
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