The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 mg/ml.
Best use within three months from the date of receipt of this protein.
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Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.79% Tris HCl, 0.3% Glutathione
Snyder Robinson X linked mental retardation syndrome
Required for normal viability, growth and fertility.
Amine and polyamine biosynthesis; spermine biosynthesis; spermine from spermidine: step 1/1.
Involvement in disease
Defects in SMS are the cause of Snyder-Robinson syndrome (SRS) [MIM:309583]; also known as X-linked mental retardation Snyder-Robinson type. SRS is characterized by moderate intellectual deficit, hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Transmission is X-linked recessive.
Belongs to the spermidine/spermine synthase family.
Composed of 3 domains: the N-terminal domain has structural similarity to S-adenosylmethionine decarboxylase, the central domain is made up of four beta strands and the C-terminal domain is similar in structure to spermidine synthase. The N- and C-terminal domains are both required for activity.