Anti-Spermine synthase/SMS Antibody Picoband® Fluoro488 Conjugated

This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellectual disability called Snyder-Robinson Syndrome (SRS) . Multiple transcript variants encoding different isoforms have been found for this gene.

1. Becerra-Solano, L. E., Butler, J., Castaneda-Cisneros, G., McCloskey, D. E., Wang, X., Pegg, A. E., Schwartz, C. E., Sanchez-Corona, J., Garcia-Ortiz, J. E. A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. Am. J. Med. Genet. 149A: 328-335, 2009. 2. Cason, A. L., Ikeguchi, Y., Skinner, C., Wood, T. C., Holden, K. R., Lubs, H. A., Martinez, F., Simensen, R. J., Stevenson, R. E., Pegg, A. E., Schwartz, C. E. X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome. Europ. J. Hum. Genet. 11: 937-944, 2003. 3. de Alencastro, G., McCloskey, D. E., Kliemann, S. E., Maranduba, C. M. C., Pegg, A. E., Wang, X., Bertola, D. A., Schwartz, C. E., Passos-Bueno, M. R., Sertie, A. L. New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome. (Letter) J. Med. Genet. 45: 539-543, 2008.