Analytical Data
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Gene name
PMM2
- Application
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Alternative Names
AI585868; BOS_22465; C86848; CDG 1; CDG1; CDG1a; CDGS; MGC127449; Phosphomannomutase 2; PMM 2; Pmm2; PMM2_HUMAN
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Species
Human
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Source
E. coli
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Tag
N- GST
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Purity
Greater than 90% as determined by SDS-PAGE.
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Uniprot
O15305
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Expression Region
1-246aa
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Molecular Weight
55 kDa
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Endotoxin
< 1.0 EU per μg protein as determined by the LAL method.
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Form
Freeze-dried powder
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Buffer formulation
PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300.
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Reconstitution
Reconstitute in ddH2O to a concentration of 0.1-0.5 mg/mL. Do not vortex.
- Customization
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Stability Test
The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37℃ for 48h, and no obvious degradation and precipitation were observed. The loss rate isless than 8% within the expiration date under appropriate storage condition.
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Storage & Shelf Life
Samples are stable for up to twelve months from date of receipt at -20℃ to -80℃. Store it under sterile conditions at -20℃ to -80℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
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Shipping
In general, recombinant proteins are supplied as lyophilized powder and shipped at ambient temperature. For bulk packages, the proteins are provided as frozen liquid and shipped with blue ice, unless otherwise requested by the customer.
Quality inspection process
Related Products
Protein Description
PMM2, or Phosphomannomutase 2, is an enzyme that plays a crucial role in the metabolism of monosaccharides, specifically in the conversion of mannose-6-phosphate to mannose-1-phosphate, a key step in glycosylation and cell wall synthesis in various organisms. Mutations in the PMM2 gene are linked to Congenital Disorder of Glycosylation type Ia (CDG-Ia), a severe genetic condition characterized by a range of developmental and neurological impairments, indicating the enzyme's vital role in human health. Research on recombinant PMM2 proteins has garnered attention due to their potential applications in understanding disease mechanisms and developing therapeutic strategies. The production of recombinant PMM2 allows researchers to investigate the functional consequences of specific mutations, evaluate enzyme kinetics, and explore its structural properties. Moreover, studying PMM2 in vitro provides insights into the biochemical pathways affected by its deficiency and paves the way for gene therapy approaches to correct the underlying genetic defect. As such, the development of PMM2 recombinant proteins is essential not only for advancing our knowledge of CDG-Ia but also for exploring broader implications in glycosylation disorders and personalized medicine approaches targeting genetic diseases.
