SAMHD1(redirected from SBBI88)
SAMHD1A 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.
Defects in SAMHD1 cause Aicardi-Goutieres syndrome type 5 and chilblain lupus type 2.
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