Molecule
DNASE1L3
Extracellular DNA clearance enzyme
- Expression change
- Lost (in familial HUVS)
- Evidence level
- established
Role in pathogenesis
DNASE1L3 is a secreted endonuclease that degrades extracellular DNA within apoptotic microparticles. Biallelic loss-of-function mutations cause familial HUVS/SLE by allowing undegraded chromatin to trigger autoantibody formation (anti-dsDNA, anti-C1q). This is the only known genetic cause of HUVS.