Gene: SAMHD1

Alternate names for this Gene: CHBL2|DCIP|HDDC1|MOP-5|SBBI88|hSAMHD1

Gene 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.23

Description of this Gene: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

Type of Gene: protein-coding

rs138603088 in SAMHD1 gene and AICARDI-GOUTIERES SYNDROME PMID 30275001 2018 Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.

PMID 20653736 2010 Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.

PMID 27604406 2016 The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.

PMID 21204240 2011 Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

PMID 19525956 2009 Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

PMID 22461318 2012 SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.

PMID 28229507 2017 A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.

rs121434516 in SAMHD1 gene and AICARDI-GOUTIERES SYNDROME 5 (disorder) PMID 24035396 2013 Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutières syndrome-related SAMHD1.

PMID 29670289 2018 SAMHD1 acts at stalled replication forks to prevent interferon induction.

PMID 28229507 2017 A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.

PMID 20842748 2010 Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.

PMID 24183309 2013 Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

PMID 19525956 2009 Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

PMID 25604658 2015 Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

PMID 20358604 2010 Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.

PMID 20653736 2010 Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.

PMID 22973040 2012 The Vpx lentiviral accessory protein targets SAMHD1 for degradation in the nucleus.

PMID 22461318 2012 SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.

PMID 21204240 2011 Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

PMID 27604406 2016 The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.

PMID 22174685 2011 SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutières syndrome are highly susceptible to HIV-1 infection.

rs1291146 in SAMHD1 gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11696169 in SAMHD1 gene and Suntan PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.