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Short description of the PIK3R1base The class Ia PI3-kinase plays a pivotal role in signal transduction pathways linking insulin with many of its specific cellular responses, including GLUT4 vesicle translocation to the plasma membrane and the inhibition of glycogen synthase kinase-3. Moreover, PI3-kinase is necessary, if not sufficient, for the insulin-stimulated increase in glucose uptake, and glycogen synthesis in insulin-sensitive tissues. The PI3-kinase is heterodimeric, consisting of a catalytic subunit (p110), and a regulatory subunit (p85α). A missense variation has been found in the N-terminal SH2 domain (N-SH2) of p85α, leading to a severe insulin resistance. Our other bioinformatics services: SH2base - Database for pathogenic SH2 domain variations KinMutBase - A registry of disease-causing variations in protein kinase domains |
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