Disease-gene associations mined from literature

Literature associating AIM2 and Aicardi-Goutieres syndrome

AIM2 [ENSP00000357112]

Interferon-inducible protein AIM2; Involved in innate immune response by recognizing cytosolic double-stranded DNA and inducing caspase-1-activating inflammasome formation in macrophages. Upon binding to DNA is thought to undergo oligomerization and to associate with PYCARD initiating the recruitment of caspase-1 precusrsor and processing of interleukin-1 beta and interleukin-18. Detects cytosolic dsDNA of viral and bacterial origin in a non-sequence-specific manner. Can also trigger PYCARD-dependent, caspase-1-independent cell death that involves caspase-8 (By similarity). Tumor suppressor which may act by repressing NF-kappa-B transcriptional activity; Belongs to the HIN-200 family.

Synonyms:  AIM2,  AIM2p,  hAIM2,  O14862,  Q5T3W0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM