This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants.
Transmembrane protein 192
The αβ T Cell Receptor (TCR) is a heterodimer composed of an alpha chain and a beta chain expressed on the surface of T cells.
TREX1 is a broadly expressed 3’ to 5’ exonuclease that acts on single-stranded DNA (ssDNA) to negatively regulate the interferon-stimulatory DNA (ISD) response. In humans, there are three TREX1 isoforms generated through alternative splicing with predicted molecular weights of 32, 33, and 39 kDa. The transcript for the 33 kDa isoform is the most abundant. Mice deficient in TREX1 accumulate intracellular ssDNA, which triggers the ISD response and eventually lethal autoimmunity. Mutations in TREX1 are associated with autoimmune diseases including Aicardi-Goutieres syndrome and systemic lupus erythematosus. In addition, TREX1 prevents the cell-intrinsic innate immune response to human immunodeficiency virus (HIV) by digesting excess HIV DNA that would normally trigger induction of type I interferon.
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