Recombinant human Spermine synthase/SMS protein
SMS (Spermine synthase) belongs to the spermidine/spermine synthase family. It is an enzyme that converts spermidine into spermine. This enzyme is required for normal viability, growth and fertility involved in polyamine metabolism. Defects in SMS are the cause of Snyder-Robinson syndrome (SRS), 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. Recombinant human SMS protein, fused to His-tag at N-terminus, was expressed in E. coli and purified by using conventional chromatography techniques.
Product Specifications
Product Name Alternative
Spermine synthase, MRSR, SPMSY, SpS, SRS
Expression System
E.coli
Antigen Species
Human
Tag
His-Tag
Applications
SDS-PAGE
Concentration
1 mg/mL (determined by Bradford assay)
Purity
> 90% by SDS-PAGE
Molecular Weight
43.8 kDa (390aa) confirmed by MALDI-TOF
Additionnal Information
References & Citations
Cason A.L., et al. (2003) Eur. J. Hum. Genet. 11:937-944; ; Sowell J, et al. (2011) Clin Chim Acta. 18; ;412 (7-8) :655-60.
Storage Conditions
Can be stored at 2°C to 8°C for 1 week. For long term storage, aliquot and store at -20C to -80C. Avoid repeated freezing and thawing cycles.
Formulation
Liquid in. 20 mM Tris-HCl buffer (pH 8.0) containing 1mM DTT, 10% glycerol, 100 mM NaCl
Scientific Category
Metabolism
NCBI Accession Number
NP_004586.2
Uniprot Accession Number
P52788
Species
Human
AA Sequence
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