This gene encodes a protein belonging to the spermidine/spermin synthase family. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene are associated with X-linked Snyder-Robinson mental retardation syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012].
Zhang, Norris, Kalscheuer, Wood, Wang, Schwartz, Alexov, Van Esch: "A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome." in: Human molecular genetics, Vol. 22, Issue 18, pp. 3789-97, (2013) (PubMed).