Recombinant human PMM2 protein

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 Specifications

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