Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Deoxynucleoside triphosphate triphosphohydrolase SAMHD1

The SAMHD1 gene encodes a regulator of TNF-alpha which plays an important role in innate immunity. Mutations cause autosomal recessive Aicardi-Goutieres syndrome 5 and dominant familial chilblain lupus 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Familial Chilblain lupus 2
SAMHD1
Aicardi-Goutieres syndrome 5
SAMHD1

References:

1.

Li N et al. (2000) Identification of human homologue of mouse IFN-gamma induced protein from human dendritic cells.

external link
2.

Rice GI et al. (2009) Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

external link
3.

Dale RC et al. (2010) Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.

external link
4.

Leshinsky-Silver E et al. (2011) A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.

external link
5.

Ravenscroft JC et al. (2011) Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.

external link
6.

Laguette N et al. (2011) SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx.

external link
7.

Hrecka K et al. (2011) Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein.

external link
8.

Goldstone DC et al. (2011) HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase.

external link
9.

Lim ES et al. (2012) The ability of primate lentiviruses to degrade the monocyte restriction factor SAMHD1 preceded the birth of the viral accessory protein Vpx.

external link
10.

Laguette N et al. (2012) Evolutionary and functional analyses of the interaction between the myeloid restriction factor SAMHD1 and the lentiviral Vpx protein.

external link
11.

Lahouassa H et al. (2012) SAMHD1 restricts the replication of human immunodeficiency virus type 1 by depleting the intracellular pool of deoxynucleoside triphosphates.

external link
12.

Rehwinkel J et al. (2013) SAMHD1-dependent retroviral control and escape in mice.

external link
13.

Behrendt R et al. (2013) Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response.

external link
14.

Crow YJ et al. (2015) Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

external link
15.

Coquel F et al. (2018) SAMHD1 acts at stalled replication forks to prevent interferon induction.

external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues