Catalog No.
YHA48901
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Met1-Ser246
Predicted molecular weight
30.25 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
O15305
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
Phosphomannomutase 2, PMM2, PMM 2
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG., PMID:40335571
A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses., PMID:40307862
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG., PMID:40225925
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan., PMID:40191061
Dolutegravir plus lamivudine downregulates cellular stress responses versus three-drug HIV Regimens., PMID:40170606
Beneficial effects of Glc-1,6-P2 modulation on mutant phosphomannomutase-2., PMID:40169095
Cysteine variants in PMM2 lead to protein instability and higher sensitivity to oxidative stress in PMM2-CDG., PMID:39952535
Mendelian randomization analysis of plasma proteins reveals potential novel tumor markers for gastric cancer., PMID:39875498
Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease., PMID:39596324
O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder., PMID:39561044
Identification and Mendelian randomization validation of pathogenic gene biomarkers in obstructive sleep apnea., PMID:39220737
Sensitivity of transferrin isoform analysis for PMM2-CDG., PMID:39216211
HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation., PMID:39096554
In vitro treatment with liposome-encapsulated Mannose-1-phosphate restores N-glycosylation in PMM2-CDG patient-derived fibroblasts., PMID:39053125
Impaired myoblast differentiation and muscle IGF-1 receptor signaling pathway activation after N-glycosylation inhibition., PMID:38963344
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort., PMID:38959600
Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation., PMID:38733638
Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG., PMID:38597022
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG., PMID:38587076
Systematic proteome-wide Mendelian randomization using the human plasma proteome to identify therapeutic targets for lung adenocarcinoma., PMID:38576019
Revisiting the immunopathology of congenital disorders of glycosylation: an updated review., PMID:38550576
Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation., PMID:38458414
Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation., PMID:38433930
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models., PMID:38430517
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis., PMID:38308356
PMM2 controls ERα levels and cell proliferation in ESR1 Y537S variant expressing breast cancer cells., PMID:38266771
ReBaTSA: A simplified CeTSA protocol for studying recombinant mutant proteins in bacterial extracts., PMID:38049040
"Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics., PMID:37876147
Congenital disorders of glycosylation: narration of a story through its patents., PMID:37644541
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG., PMID:37628636
An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation., PMID:37577973
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management., PMID:37542768
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG., PMID:37392701
A liposomal carbohydrate vaccine, adjuvanted with an NKT cell agonist, induces rapid and enhanced immune responses and antibody class switching., PMID:37264420
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches., PMID:37245379
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review., PMID:37239976
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation., PMID:37224763
Congenital disorder of glycosylation - one size does not fit all: a parent's perspective., PMID:37180418
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG., PMID:37042760
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes., PMID:36997834
Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation., PMID:36965289
Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability., PMID:36743691
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation., PMID:36719165
Mannose metabolism normalizes gut homeostasis by blocking the TNF-α-mediated proinflammatory circuit., PMID:36471112
Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1?, PMID:36451346
A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report., PMID:36221102
Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease., PMID:36214454
Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants., PMID:36046393
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones., PMID:35789514
N-Glycosylation Deficiency Reduces the Activation of Protein C and Disrupts Endothelial Barrier Integrity., PMID:35717947
For research use only. Not for human or drug use.
