Aliases for SAMHD1 Gene
External Ids for SAMHD1 Gene
Previous GeneCards Identifiers for SAMHD1 Gene
This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]
GeneCards Summary for SAMHD1 Gene
SAMHD1 (SAM Domain And HD Domain 1) is a Protein Coding gene. Diseases associated with SAMHD1 include Aicardi-Goutieres Syndrome 5 and Chilblain Lupus 2. Among its related pathways are Immune System and Immune response IFN alpha/beta signaling pathway. GO annotations related to this gene include nucleic acid binding and dGTPase activity.
UniProtKB/Swiss-Prot for SAMHD1 Gene
Host restriction nuclease that blocks early-stage virus replication in dendritic and other myeloid cells. Likewise, suppresses LINE-1 retrotransposon activity. May function by reducing the cellular dNTP levels to levels too low for retroviral reverse transcription to occur. May play a role in mediating proinflammatory responses to TNF-alpha signaling.