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Genetics Home Reference: your guide to understanding genetic conditions
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SAMHD1

Reviewed July 2010

What is the official name of the SAMHD1 gene?

The official name of this gene is “SAM domain and HD domain 1.”

SAMHD1 is the gene's official symbol. The SAMHD1 gene is also known by other names, listed below.

What is the normal function of the SAMHD1 gene?

The SAMHD1 gene provides instructions for making a protein whose function is not well understood. The SAMHD1 protein is believed to be involved in the immune system, including the inflammatory process and response to viral infections.

How are changes in the SAMHD1 gene related to health conditions?

Aicardi-Goutieres syndrome - caused by mutations in the SAMHD1 gene

At least 16 mutations in the SAMHD1 gene have been identified in people with Aicardi-Goutieres syndrome. Mutations in this gene likely result in a SAMHD1 protein that does not function properly. It is not known how this protein dysfunction leads to immune system abnormalities, inflammatory damage to the brain and skin, and other characteristics of Aicardi-Goutieres syndrome.

Where is the SAMHD1 gene located?

Cytogenetic Location: 20pter-q12

Molecular Location on chromosome 20: base pairs 35,520,226 to 35,580,245

The SAMHD1 gene is located on chromosome 20 between the short (p) arm at the end (terminus) of the arm and the long (q) arm at position 12.

The SAMHD1 gene is located on chromosome 20 between the short (p) arm at the end (terminus) of the arm and the long (q) arm at position 12.

More precisely, the SAMHD1 gene is located from base pair 35,520,226 to base pair 35,580,245 on chromosome 20.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SAMHD1?

You and your healthcare professional may find the following resources about SAMHD1 helpful.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ags)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for SAMHD1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25939%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(SAMHD1%5BTIAB%5D)%20OR%20((MOP-5%5BTIAB%5D)%20OR%20(AGS5%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/606754)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SAMHD1.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/25939)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=25939)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=15925)

What other names do people use for the SAMHD1 gene or gene products?

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

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SAMHD1?

cell ; dendritic cell ; domain ; gene ; immune system ; monocyte ; protein ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/19808788?dopt=Abstract)
  • Dale RC, Gornall H, Singh-Grewal D, Alcausin M, Rice GI, Crow YJ. Familial Aicardi-Goutičres 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. (http://www.ncbi.nlm.nih.gov/pubmed/20358604?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/25939)
  • OMIM: SAM DOMAIN- AND HD DOMAIN-CONTAINING PROTEIN 1 (http://omim.org/entry/606754)
  • Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK, Ungerath K, Walkenhorst H, Richardt HH, Buckard J, Bevot A, Siegel C, von Stülpnagel C, Ikonomidou C, Thomas K, Proud V, Niemann F, Wieczorek D, Häusler M, Niggemann P, Baltaci V, Conrad K, Lebon P, Lee-Kirsch MA. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutičres syndrome. Arthritis Rheum. 2010 May;62(5):1469-77. doi: 10.1002/art.27367. (http://www.ncbi.nlm.nih.gov/pubmed/20131292?dopt=Abstract)
  • 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-Goutičres 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. (http://www.ncbi.nlm.nih.gov/pubmed/19525956?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2010
Published: May 13, 2013