Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2020;31(3):407-410.
doi: 10.1080/09537104.2019.1648781. Epub 2019 Aug 4.

SLFN14 gene mutations associated with bleeding

Rachel J Stapley  1 , Vera P Pisareva  2 , Andrey V Pisarev  2 , Neil V Morgan  1
Affiliations
Review

SLFN14 gene mutations associated with bleeding

Rachel J Stapley et al. Platelets. 2020.
No abstract available

Keywords: Bleeding; SLFN14; genes; inherited thrombocytopenia; mutations; platelets.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Schematic representation of the protein structure encoded by the SLFN family of genes, highlighting domains and regions in both mus musculus and homo sapiens. ‘slfn’ box is unique to SLFN proteins and function remains unknown. The AAA domain is responsible for DNA and RNA metabolism and the SWADL region, again believed to be SLFN specific, is a sequence flanked by SWA and DL amino acids. The helicase regions at the C-terminal end of the protein are known to mediate DNA and RNA metabolism. The involvement of mutations and thrombocytopenia within the AAA domain of the SLFN14 protein remains unclear.
See this image and copyright information in PMC

References

    1. Schwarz DA, Katayama CD, Hedrick SM.. Schlafen, a new family of growth regulatory genes that affect thymocyte development. Immunity 1998;9(5):657–668. - PubMed
    1. Geserick P, Kaiser F, Klemm U, Kaufmann SHE, Zerrahn J. Modulation of T cell development and activation by novel members of the Schlafen (slfn) gene family harbouring an RNA helicase-like motif. Int Immunol 2004;16(10):1535–1548. doi:10.1093/intimm/dxh155 - DOI - PubMed
    1. Neumann B, Zhao L, Murphy K, Gonda TJ. Subcellular localization of the Schlafen protein family. Biochem Biophys Res Commun 2008;370(1):62–66. doi:10.1016/j.bbrc.2008.03.032 - DOI - PubMed
    1. Mavrommatis E, Arslan AD, Sassano A, Hua Y, Kroczynska B, Platanias LC. Expression and regulatory effects of murine Schlafen (Slfn) genes in malignant melanoma and renal cell carcinoma. J Biol Chem 2013;288(46):33006–33015. doi:10.1074/jbc.M113.460741 - DOI - PMC - PubMed
    1. Hanson PI, Whiteheart SW. AAA+ proteins: have engine, will work. Nat Rev Mol Cell Biol 2005;6:519. doi:10.1038/nrm1684 - DOI - PubMed