- Catalog number
- A03146-1
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene. The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I.
- Synonyms
- 70 kDa ribosomal protein S6 kinase 1 antibody, KS6B1_HUMAN antibody, p70 alpha antibody, P70 beta 1 antibody, p70 ribosomal S6 kinase alpha antibody, p70 ribosomal S6 kinase beta 1 antibody, p70 S6 kinase alpha antibody, P70 S6 Kinase antibody, p70 S6 kinase alpha 1 antibody, p70 S6 kinase alpha 2 antibody, p70 S6K antibody, p70 S6K-alpha antibody, p70 S6KA antibody, p70 (S6K) alpha antibody, p70 (S6K) -alpha antibody, p70-alpha antibody, p70-S6K 1 antibody, p70-S6K antibody, P70S6K antibody, P70S6K1 antibody, p70S6Kb antibody, PS6K antibody, Ribosomal protein S6 kinase 70kDa polypeptide 1 antibody, Ribosomal protein S6 kinase beta 1 antibody, Ribosomal protein S6 kinase beta-1 antibody, Ribosomal protein S6 kinase I antibody, RPS6KB1 antibody, S6K antibody, S6K-beta-1 antibody, S6K1 antibody, Serine/threonine kinase 14 alpha antibody, Serine/threonine-protein kinase 14A antibody, STK14A antibody
- Gene Name
- PMM2
- Gene ID
- 5373
- UniProt
- O15305
- Host
- Rabbit
- Reactivity
- Human, Mouse, Rat
- Cross Reactivity
- No cross reactivity with other proteins.
- Immunogen
- E.coli-derived human PMM2 recombinant protein (Position: D48-S246) . Human PMM2 shares 92.4% amino acid (aa) sequence identity with mouse PMM2.
- Clonality
- Polyclonal
- Tissue Specificity
- Expressed in all tissues.
- Applications
- WB, ICC, IF, Flow Cytometry, ELISA
- Field of Research
- Signal Transduction, Signaling Pathway, Small G Proteins
- Purification
- Immunogen affinity purified.
- Concentration
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Form
- Lyophilized
- Reconstitution
- Adding 0.2 ml of distilled water will yield a concentration of 500 μg/ml.
- Function
- Downstream effector of TOR signaling pathway involved in osmotic stress response. Could be involved in the control of plant growth and development. Phosphorylates the ribosomal proteins P14, P16 and S6. Functions as a repressor of cell proliferation and required for maintenance of chromosome stability and ploidy levels through the RBR1-E2F pathway.
- References & Citations
- 1. Bjursell, C., Erlandson, A., Nordling, M., Nilsson, S., Wahlstrom, J., Stibler, H., Kristiansson, B., Martinsson, T. PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families. Hum. Mutat. 16: 395-400, 2000. 2. Bjursell, C., Wahlstrom, J., Berg, K., Stibler, H., Kristiansson, B., Matthijs, G., Martinsson, T. Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families. Europ. J. Hum. Genet. 6: 603-611, 1998. 3. Bohles, H., Sewell, A. C., Gebhardt, B., Reinecke-Luthge, A., Kloppel, G., Marquardt, T. Hyperinsulinaemic hypoglycaemia: leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency) . J. Inherit. Metab. Dis. 24: 858-862, 2001.
- Storage Conditions
- At -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freezing and thawing.
- Calculated Molecular Weight
- 52588 MW
- Observed Molecular Weight
- 28 kDa
- Applications Notes
- 6
- Gene Name Synonym
- Serine/threonine-protein kinase AtPK1/AtPK6
- Subcellular Location
- Cytoplasm. Nucleus.
- Protein Name
- Serine/threonine-protein kinase AtPK1/AtPK6
- Isotype
- IgG
- Contents
- Each vial contains 4 mg Trehalose, 0.9 mg NaCl, 0.2 mg Na2HPO4.
