SAMHD1
SAMHD1
A gene on chromosome 20pter-q12 that encodes a putative nuclease involved in the innate immune response, which acts by downregulating cell-intrinsic antiviral response. It may play a role in mediating pro-inflammatory responses to TNF-alpha signalling. It is expressed in the heart, skeletal muscle, spleen, liver and elsewhere, but not in the brain or thymus.Molecular pathology
Defects in SAMHD1 cause Aicardi-Goutieres syndrome type 5 and chilblain lupus type 2.