Recombinant Human Spermine synthase (SMS)

Code CSB-YP021854HU
MSDS
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Source Yeast
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Code CSB-EP021854HU
MSDS
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Source E.coli
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Code CSB-EP021854HU-B
MSDS
Size Pls inquire
Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-BP021854HU
MSDS
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Source Baculovirus
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Code CSB-MP021854HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
SMS
Uniprot No.
Alternative Names
MRSR; SMS; Snyder Robinson X linked mental retardation syndrome; Spermidine aminopropyltransferase; Spermine synthase; SPMSY; SpS; SPSY_HUMAN; SRS
Species
Homo sapiens (Human)
Expression Region
2-366
Target Protein Sequence
AAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQDHGYLATYTNKNGSFANL RIYPHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMKELSQDSTGRVKRLPPIVRGGAID RYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRAI MGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVIDGCKKYMRKTCGDVL DNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAVPISTSPEEDSTWEFLRLILDL SMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLELWVFYTVW KKAKP
Protein Length
Full Length of Mature Protein
Tag Info
Tag type will be determined during the manufacturing process.
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form
Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet
Please contact us to get it.

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Target Background

Function
Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM).
Gene References into Functions
  1. Missense mutations causing Snyder-Robinson Syndrome resulting in dysfunctional spermine synthase cause the destabilization of the protein. PMID: 26761001
  2. 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
  3. Studied human spermine synthase activity by engineered mutations. PMID: 23468611
  4. 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
  5. 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
  6. the mutability of spermine synthase PMID: 21647366
  7. 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
  8. each gene was associated with at least one main outcome: anxiety (SAT1, SMS), mood disorders (SAT1, SMOX), and suicide attempts (SAT1, OATL1). PMID: 21152090
  9. the genetic and epigenetic factors examined in this study show little influence on the expression level of SMS in suicide completers. PMID: 20059804
  10. 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
  11. A missense mutation, p. V132G, in the X-linked SMS gene causes Snyder-Robinson syndrome. PMID: 19206178
  12. 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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Involvement in disease
X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR)
Protein Families
Spermidine/spermine synthase family
Database Links

HGNC: 11123

OMIM: 300105

KEGG: hsa:6611

STRING: 9606.ENSP00000385746

UniGene: Hs.724874

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