Recombinant humaan PMM2-eiwit

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.

Phosphomannomutase 2, CDG1, CDG1a, CDGS, Phosphomannomutase 2

E.coli

Human

His-Tag

SDS-PAGE

1 mg/mL (determined by Bradford assay)

> 90% by SDS-PAGE

30.2 kDa (266aa) confirmed by MALDI-TOF

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

Matthijs G., et al. (1997) Nat Genet. 16 (1) :88-92. ; ; Vega AI., et al. (2009) Hum Mutat. 30 (5) :795-803.;

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.

Liquid in. 20 mM Tris-HCl buffer (pH 8.0) containing 10% glycerol, 1mM DTT, 0.1M NaCl.

Metabolism

NP_000294.1

O15305

Human

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