Disease-gene associations mined from literature

Literature associating SAMHD1 and Aicardi-Goutieres syndrome

SAMHD1 [ENSP00000262878]

Deoxynucleoside triphosphate triphosphohydrolase SAMHD1; Host restriction nuclease involved in defense response to virus. Has dNTPase activity and reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur. Blocks early-stage virus replication in dendritic and other myeloid cells. Likewise, suppresses LINE-1 retrotransposon activity. May play a role in mediating proinflammatory responses to TNF-alpha signaling. Has ribonuclease activity, acting on single-stranded RNA. This activity is essential for H1V-1 restriction; Sterile alpha motif domain containing

Synonyms:  SAMHD1,  SAMHD1p,  hSAMHD1,  A6NDZ3,  Q9Y3Z3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM