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SMS encodes a protein belonging to the spermidine/spermin synthase family.
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Missense mutations causing Snyder-Robinson Syndrome resulting in dysfunctional spermine synthase cause the destabilization of the protein.
Results show that p.Y328C, a missense mutation in SMS is responsible for the patients having a mild form of Snyder-Robinson syndrome.
Studied human spermine synthase activity by engineered mutations.
This observation is used to demonstrate, computationally and experimentally, that a particular condition, Snyder-Robinson syndrome caused by the G56S spermine synthase mutation, might be ameliorated by small molecule binding.
spermine synthase activity and the resulting elevation of the spermine:spermidine ratio does not alter susceptibility to tumor development initiated by c-Ha-Ras mutation or Apc (zeige APC Proteine) loss
the mutability of spermine synthase
Mutations in the spermine synthase have been shown to be responsible for an X-linked intellectual disability condition known as Snyder-Robinson syndrome.
each gene was associated with at least one main outcome: anxiety (SAT1 (zeige SAT1 Proteine), SMS), mood disorders (SAT1 (zeige SAT1 Proteine), SMOX (zeige SMOX Proteine)), and suicide attempts (SAT1 (zeige SAT1 Proteine), OATL1 (zeige TBC1D25 Proteine)).
the genetic and epigenetic factors examined in this study show little influence on the expression level of SMS in suicide completers.
Study reports the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with Snyder-Robinson X-linked mental retardation syndrome.
regulation of spermine synthase content is not required for spermine synthesis, which is needed for normal growth, viability, and fertility in male mice
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.