PMM2 Human
目录号 : GP22105Phosphomannomutase 2 Human Recombinant
Sample solution is provided at 25 µL, 10mM.
Purity | Greater than 95.0% as determined by SDS-PAGE. | Source | Escherichia Coli. |
Phycical Appearance | Sterile Filtered colorless solution. | Shipping Condition | Shipped with Ice Packs. |
Synonyms | Phosphomannomutase 2; PMM 2; PMM2; CDG1; CDGS; CDG1a. | ||
Amino Acid Sequence | MGSSHHHHHH SSGLVPRGSH 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. | ||
Stability | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. | ||
Formulation | The PMM2 solution (1 mg/ml) contains 20mM Tris-HCl buffer(pH 8.0), 10% glycerol, 1mM DTT and 0.1M NaCl. |
Phosphomannomutase 2 (PMM2) is a member of the eukaryotic PMM family. Phosphomannomutase 2 is involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. PMM2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. PMM2 mutations are linked to congenital disorders of glycosylation (CDG)-Ia, an autosomal recessive disorder characterized by central nervous system dysfunction and multiorgan failure.
Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.