Manufacturer |
Cusabio
|
Category |
|
Type |
Proteins Recombinant |
Specific against |
other |
Format |
Liquid or Lyophilized powder |
Amount |
200ug |
Host |
E.coli |
Item no. |
CSB-EP018238HU-200 |
Conjugate/Tag |
GST |
eClass 6.1 |
34160400 |
eClass 9.0 |
42020190 |
Available |
|
Research Topic |
Signal Transduction |
Uniprot ID |
O15305 |
Gene Names |
PMM2 |
Organism |
Homo sapiens (Human) |
AA Sequence |
AAPGPALCLFDVDGTLTAPRQKITKEMDDFLQKLR QKIKIGVVGGSDFEKVQEQLGNDVVEKYDYVFPEN GLVAYKDGKLLCRQNIQSHLGEALIQDLINYCLSY IAKIKLPKKRGTFIEFRNGMLNVSPIGRSCSQEER IEFYELDKKENIRQKFVADLRKEFAGKGLTFSIGG QISFDVFPDGWDKRYCLRHVENDGYKTIYFFGDKT MPGGNDHEIFTDPRTMGYSVTAPEDTRRICELLFS |
Expression Region |
1-246aa |
Sequence Info |
Full Length |
Source |
E.coli |
Tag Info |
N-terminal GST-tagged |
MW |
55 kDa |
Relevance |
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. |
Reference |
"Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)." Matthijs G., Schollen E., Pardon E., Veiga-Da-Cunha M., Jaeken J., Cassiman J.-J., van Schaftingen E. Nat. Genet. 16:88-92(1997) |
Purity |
Greater than 90% as determined by SDS-PAGE. |
Storage Buffer |
Tris-based buffer, 50% glycerol |
Storage |
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 -20C/-80C. The shelf life of lyophilized form is 12 months at -20C/-80C. |
Notes |
Repeated freezing and thawing is not recommended. Store working aliquots at 4C for up to one week. |
Function |
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. |
Involvement in disease |
Congenital disorder of glycosylation 1A (CDG1A) |
Subcellular Location |
Cytoplasm |
Protein Families |
Eukaryotic PMM family |
Tag Information |
N-terminal GST-tagged |
Note: The presented information and documents (Manual, Product Datasheet, Safety Datasheet and Certificate of Analysis) correspond to our latest update and should serve for orientational purpose only. We do not guarantee the topicality. We would kindly ask you to make a request for specific requirements, if necessary.
All products are intended for research use only (RUO). Not for human, veterinary or therapeutic use.