AKT serine/threonine kinase 1
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A AKT1 gene provides instructions for making a protein called AKT1 kinase. This protein is found in various cell types throughout the body, where it plays a critical role in many signaling pathways. For example, AKT1 kinase helps regulate cell growth and division (proliferation), the process by which cells mature to carry out specific functions (differentiation), and cell survival. AKT1 kinase also helps control apoptosis, which is the self-destruction of cells when they become damaged or are no longer needed.
Normal function
A AKT1 gene provides instructions for making a protein called AKT1 kinase. This protein is found in various cell types throughout the body, where it plays a critical role in many signaling pathways. For example, AKT1 kinase helps regulate cell growth and division (proliferation), the process by which cells mature to carry out specific functions (differentiation), and cell survival. AKT1 kinase also helps control apoptosis, which is the self-destruction of cells when they become damaged or are no longer needed.
Signaling involving AKT1 kinase appears to be essential for the normal development and function of the nervous system. Studies have suggested a role for AKT1 kinase in cell-to-cell communication among nerve cells (neurons), neuronal survival, and the formation of memories.
A AKT1 gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous.
Conditions referring to this gene or chromosome
Other names
AKT
AKT1_HUMAN
MGC99656
PKB
PKB alpha
PKB-ALPHA
PRKBA
protein kinase B alpha
proto-oncogene c-Akt
RAC
rac protein kinase alpha
RAC-ALPHA
RAC-alpha serine/threonine-protein kinase
RAC-PK-alpha
v-akt murine thymoma viral oncogene homolog 1
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Leitura adicional e referências
- AKT serine/threonine kinase 1; MedlinePlus, National Library of Medicine.
- Carpten JD, Faber AL, Horn C, Donoho GP, Briggs SL, Robbins CM, Hostetter G, Boguslawski S, Moses TY, Savage S, Uhlik M, Lin A, Du J, Qian YW, Zeckner DJ, Tucker-Kellogg G, Touchman J, Patel K, Mousses S, Bittner M, Schevitz R, Lai MH, Blanchard KL, Thomas JE. A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. Nature. 2007 Jul 26;448(7152):439-44. doi: 10.1038/nature05933. Epub 2007 Jul 4.
- Emamian ES, Hall D, Birnbaum MJ, Karayiorgou M, Gogos JA. Convergent evidence for impaired AKT1-GSK3beta signaling in schizophrenia. Nat Genet. 2004 Feb;36(2):131-7. doi: 10.1038/ng1296. Epub 2004 Jan 25.
- Emamian ES. AKT/GSK3 signaling pathway and schizophrenia. Front Mol Neurosci. 2012 Mar 15;5:33. doi: 10.3389/fnmol.2012.00033. eCollection 2012.
- Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017. Epub 2011 Jul 27.
- Schwab SG, Hoefgen B, Hanses C, Hassenbach MB, Albus M, Lerer B, Trixler M, Maier W, Wildenauer DB. Further evidence for association of variants in the AKT1 gene with schizophrenia in a sample of European sib-pair families. Biol Psychiatry. 2005 Sep 15;58(6):446-50. doi: 10.1016/j.biopsych.2005.05.005.
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