- Catalog number
- A06305-1
- Size / count
- 100 µg/Vial
- Dry ice
- No
- Hazardous
- No
- Discontinued
- No
- Background
- Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS.
- 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
- MAGEL2
- Gene ID
- 54551
- UniProt
- Q9UJ55
- Host
- Rabbit
- Reactivity
- Human
- Cross Reactivity
- No cross reactivity with other proteins.
- Immunogen
- E.coli-derived human MAGEL2 recombinant protein (Position: Q578-A847) .
- Clonality
- Polyclonal
- Tissue Specificity
- Expressed in all tissues.
- Applications
- WB, IHC, 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. Bayat, A., Bayat, M., Lozoya, R., Schaaf, C. P. Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infant with Schaaf-Yang syndrome--expanding the phenotypic spectrum. Europ. J. Med. Genet. 61: 627-630, 2018. 2. Bischof, J. M., Stewart, C. L., Wevrick, R. Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome. Hum. Molec. Genet. 16: 2713-2739, 2007. 3. Boccaccio, I., Glatt-Deeley, H., Watrin, F., Roeckel, N., Lalande, M., Muscatelli, F. The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region. Hum. Molec. Genet. 8: 2497-2505, 1999.
- 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
- 133 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.