Scientific background: |
RAC-gamma serine/threonine-protein kinase, also known as protein kinase Akt-3, is an enzyme that in humans is encoded by the AKT3 gene. This gene is mapped to 1q43-q44. The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). AKT3 plays an important role in brain development and is crucial for the viability of malignant glioma cells. AKT3 isoform may also be the key molecule in up-regulation and down-regulation of MMP13 via IL13. This gene is required for the coordination of mitochondrial biogenesis with growth factor-induced increases in cellular energy demands. |
References: |
1. Boland, E., Clayton-Smith, J., Woo, V. G., McKee, S., Manson, F. D. C., Medne, L., Zackai, E., Swanson, E. A., Fitzpatrick, D., Millen, K. J., Sherr, E. H., Dobyns, W. B., Black, G. C. M. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am. J. Hum. Genet. 81: 292-303, 2007.
2. Poduri, A., Evrony, G. D., Cai, X., Elhosary, P. C., Beroukhim, R., Lehtinen, M. K., Hills, L. B., Heinzen, E. L., Hill, A., Hill, R. S., Barry, B. J., Bourgeois, B. F. D., Riviello, J. J., Barkovich, A. J., Black, P. M., Ligon, K. L., Walsh, C. A. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron 74: 41-48, 2012.
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