Format

Send to

Choose Destination
See comment in PubMed Commons below
Methods Mol Biol. 2011;720:437-45. doi: 10.1007/978-1-61779-034-8_28.

Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).

Author information

  • 1Greenwood Genetic Center, J.C. Self Research Institute, Greenwood, SC, USA. ceschwartz@ggc.org

Abstract

Polyamines, small positively charged molecules, are vital for cell proliferation and differentiation. They are found ubiquitously in eukaryotic cells. Additionally, they interact with a wide range of other molecules and some membrane associated receptors. Polyamines, spermidine and spermine, are synthesized by two aminopropyltransferases, spermidine synthase and spermine synthase. Recently, mutations in the latter enzyme have been shown to be responsible for an X-linked intellectual disability condition known as Snyder-Robinson syndrome. Spermine synthase deficiency is thus far the only known polyamine deficiency syndrome in humans.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Write to the Help Desk