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Recombinant human PMM2 protein

CAT: 0112-ATGP0727-020Size: 20 µgDry Ice: NoHazardous: No
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CAT#:0112-ATGP0727-020Size:20 µg
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24/48H Stock Items & 2 to 6 Weeks non Stock Items.
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Description
PMM2, also known as Phosphomannomutase 2, belongs to the eukaryotic PMM family. PMM2 is involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. It catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mutations in PMM2 are associated with Congenital disorders of glycosylation (CDG) -Ia, an autosomal recessive disorder characterized by central nervous system dysfunction and multiorgan failure. Recombinant human PMM2 protein, fused to His-tag at N-terminus, was expressed in E. coli and purified by using conventional chromatography techniques.
Product Name Alternative
Phosphomannomutase 2, CDG1, CDG1a, CDGS, Phosphomannomutase 2
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
30.2 kDa (266aa) confirmed by MALDI-TOF
Additionnal Information
PMM2, Phosphomannomutase 2, CDG1, CDG1a, CDGS, Phosphomannomutase 2, ATGP0727-10 µg, ATGP0727-20 µg, ATGP0727-50 µg, ATGP0727-100 µg, ATGP0727-250 µg, ATGP0727-500 µg, ATGP0727-1 mg, ATGP0727-10, ATGP0727-20, ATGP0727-50, ATGP0727-100, ATGP0727-250, ATGP0727-500, ATGP0727-1
References & Citations
Matthijs G., et al. (1997) Nat Genet. 16 (1) :88-92. ; ; Vega AI., et al. (2009) Hum Mutat. 30 (5) :795-803.;
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 10% glycerol, 1mM DTT, 0.1M NaCl.
Scientific Category
Metabolism
NCBI Accession Number
NP_000294.1
Uniprot Accession Number
O15305
Species
Human
AA Sequence
MAAPGPALCL FDVDGTLTAP RQKITKEMDD FLQKLRQKIK IGVVGGSDFE KVQEQLGNDV VEKYDYVFPE NGLVAYKDGK LLCRQNIQSH LGEALIQDLI NYCLSYIAKI KLPKKRGTFI EFRNGMLNVS PIGRSCSQEE RIEFYELDKK ENIRQKFVAD LRKEFAGKGL TFSIGGQISF DVFPDGWDKR YCLRHVENDG YKTIYFFGDK TMPGGNDHEI FTDPRTMGYS VTAPEDTRRI CELLFS