Gene Symbol | SAMHD1 |
Entrez Gene ID | 25939 |
Full Name | SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
Synonyms | CHBL2,DCIP,HDDC1,MOP-5,SBBI88 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Aicardi-Goutieres syndrome 5, 612952 (3); ?Chilblain lupus 2, 614415 (3) |