Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期:
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM).
基因功能參考文獻(xiàn):
Missense mutations causing Snyder-Robinson Syndrome resulting in dysfunctional spermine synthase cause the destabilization of the protein. PMID: 26761001
Results show that p.Y328C, a missense mutation in SMS is responsible for the patients having a mild form of Snyder-Robinson syndrome. PMID: 23696453
Studied human spermine synthase activity by engineered mutations. PMID: 23468611
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. PMID: 23408511
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 loss PMID: 22258329
Mutations in the spermine synthase have been shown to be responsible for an X-linked intellectual disability condition known as Snyder-Robinson syndrome. PMID: 21318891
each gene was associated with at least one main outcome: anxiety (SAT1, SMS), mood disorders (SAT1, SMOX), and suicide attempts (SAT1, OATL1). PMID: 21152090
the genetic and epigenetic factors examined in this study show little influence on the expression level of SMS in suicide completers. PMID: 20059804
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. PMID: 18550699
A missense mutation, p. V132G, in the X-linked SMS gene causes Snyder-Robinson syndrome. PMID: 19206178
Data suggest that disruption of spermine synthase function may negatively affect regional brain volumes that subserve cognitive and motor abilities. PMID: 19277733
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相關(guān)疾病:
X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR)