Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas Blood, Mar 2013; 121: 2563 - 2566.
[anti-HA]
Regulation of the PI3-K/Akt Survival Pathway in the Rat Endometrium Biol Reprod, Mar 2013; 88: 79.
[Akt3]
RNA elements directing in vivo assembly of the 7SK/MePCE/Larp7 transcriptional regulatory snRNP Nucleic Acids Res., Mar 2013; 10.1093/nar/gkt159.
[LA]
Ruxolitinib as potential targeted therapy for patients with JAK2 rearrangements Haematologica, Mar 2013; 98: 404 - 408.
[JAK2]
The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq].
Related Pathway
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Western blot of HEK293 cells transfected with Parkin WT (Phospho) and Parkin S378 mutant (non-phospho) showing the phospho-specific immunolabeling of the ~ 52 k parkin protein. The immunolabeling is absent in the parkin S378 mutant.
Western blot of HEK293 cells transfected with Parkin WT (Phospho) and Parkin S378 mutant (non-phospho) showing the phospho-specific immunolabeling of the ~ 52 k parkin protein. The immunolabeling is absent in the parkin S378 mutant.
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