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SAMHD1 gene

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
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Normal Function

The SAMHD1 gene provides instructions for making an enzyme that helps cut (cleave) molecules called deoxynucleoside triphosphates (dNTPs) into their deoxynucleoside and triphosphate components. The dNTP molecules are needed for the replication and maintenance of the genetic material (DNA) in the body's cells, and the amount of available dNTPs must be tightly controlled for these functions to proceed normally. Invading viruses such as the human immunodeficiency virus (HIV) also need dNTPs in order to replicate themselves. The SAMHD1 enzyme helps regulate the amount of available dNTPs to both meet the needs of the body's cells and control viral infections.

Health Conditions Related to Genetic Changes

Aicardi-Goutières syndrome

At least 78 mutations in the SAMHD1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), skin lesions, and other health problems. Research suggests that mutations in this gene may lead to production of a SAMHD1 protein that does not properly regulate the amount of available dNTPs. As a result, DNA maintenance is impaired, allowing DNA damage to accumulate in cells. Research suggests that this DNA damage may lead to cell signaling that inappropriately activates an immune response. As a result, the immune system attacks the body's own tissues and organs, causing inflammatory damage to the brain, skin, and other body systems that lead to the characteristic features of Aicardi-Goutières syndrome.

More About This Health Condition

Other Names for This Gene

  • AGS5
  • DCIP
  • dendritic cell-derived IFNG-induced protein
  • HDDC1
  • Mg11
  • monocyte protein 5
  • MOP-5
  • SAM domain and HD domain 1
  • SAM domain and HD domain-containing protein 1
  • SAMH1_HUMAN
  • SBBI88

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Citation on PubMed or Free article on PubMed Central
  • Crow YJ, Rehwinkel J. Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet. 2009 Oct 15;18(R2):R130-6. doi: 10.1093/hmg/ddp293. Review. Citation on PubMed or Free article on PubMed Central
  • Crow YJ. Aicardi-Goutières Syndrome. 2005 Jun 29 [updated 2016 Nov 22]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1475/ Citation on PubMed
  • Crow YJ. Aicardi-Goutières syndrome. Handb Clin Neurol. 2013;113:1629-35. doi: 10.1016/B978-0-444-59565-2.00031-9. Review. Citation on PubMed
  • Dale RC, Gornall H, Singh-Grewal D, Alcausin M, Rice GI, Crow YJ. Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. Am J Med Genet A. 2010 Apr;152A(4):938-42. doi: 10.1002/ajmg.a.33359. Citation on PubMed
  • Franzolin E, Pontarin G, Rampazzo C, Miazzi C, Ferraro P, Palumbo E, Reichard P, Bianchi V. The deoxynucleotide triphosphohydrolase SAMHD1 is a major regulator of DNA precursor pools in mammalian cells. Proc Natl Acad Sci U S A. 2013 Aug 27;110(35):14272-7. doi: 10.1073/pnas.1312033110. Epub 2013 Jul 15. Citation on PubMed or Free article on PubMed Central
  • Kretschmer S, Wolf C, König N, Staroske W, Guck J, Häusler M, Luksch H, Nguyen LA, Kim B, Alexopoulou D, Dahl A, Rapp A, Cardoso MC, Shevchenko A, Lee-Kirsch MA. SAMHD1 prevents autoimmunity by maintaining genome stability. Ann Rheum Dis. 2015 Mar;74(3):e17. doi: 10.1136/annrheumdis-2013-204845. Epub 2014 Jan 20. Citation on PubMed or Free article on PubMed Central
  • Livingston JH, Crow YJ. Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. Neuropediatrics. 2016 Dec;47(6):355-360. Epub 2016 Sep 19. Review. Citation on PubMed
  • Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub 2009 Jun 14. Citation on PubMed or Free article on PubMed Central
  • Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30. Citation on PubMed or Free article on PubMed Central
  • Sze A, Olagnier D, Lin R, van Grevenynghe J, Hiscott J. SAMHD1 host restriction factor: a link with innate immune sensing of retrovirus infection. J Mol Biol. 2013 Dec 13;425(24):4981-94. doi: 10.1016/j.jmb.2013.10.022. Epub 2013 Oct 23. Review. Citation on PubMed
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