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AKT1 gene

AKT serine/threonine kinase 1
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Normal Function

The 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.

The AKT1 gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous.

Health Conditions Related to Genetic Changes

Proteus syndrome

At least one mutation in the AKT1 gene has been found to cause Proteus syndrome, a rare condition characterized by overgrowth of the bones, skin, and other tissues. This mutation changes a single protein building block (amino acid) in AKT1 kinase. Specifically, it replaces the amino acid glutamic acid with the amino acid lysine at protein position 17 (written as Glu17Lys or E17K). The mutation is not inherited from a parent; in people with Proteus syndrome, the mutation arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a genetic mutation is known as mosaicism.

The Glu17Lys mutation leads to the production of an overactive AKT1 kinase that is turned on when it should not be. The abnormally active protein disrupts a cell's ability to regulate its own growth, allowing the cell to grow and divide abnormally. Increased cell proliferation in various tissues and organs leads to the overgrowth characteristic of Proteus syndrome. Studies suggest that the AKT1 gene mutation is more common in groups of cells that experience overgrowth than in the parts of the body that grow normally.

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Ovarian cancer

MedlinePlus Genetics provides information about Ovarian cancer

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Schizophrenia

MedlinePlus Genetics provides information about Schizophrenia

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Cancers

The Glu17Lys mutation in the AKT1 gene (described above) has also been found in a small percentage of breast, ovarian, and colorectal cancers. In these cases the mutation is somatic, which means it is acquired during a person's lifetime and is present only in tumor cells. The mutation abnormally activates AKT1 kinase, allowing cells to grow and divide without control or order. This disordered cell proliferation leads to the development of cancerous tumors.

Although the Glu17Lys mutation has been reported in only a few types of cancer, increased activity (expression) of the AKT1 gene is found in many types of cancer.

Other disorders

Several common variations (polymorphisms) in the AKT1 gene have been found more often in people with schizophrenia than in those without the disease. These polymorphisms alter single DNA building blocks (nucleotides) in the AKT1 gene. It is unknown whether the genetic changes have an effect on the structure or function of AKT1 kinase, and if so, how they are related to the development of schizophrenia. AKT1 gene polymorphisms appear to be one of many genetic and environmental factors that contribute to the development of this complex psychiatric disorder.

Other Names for This Gene

  • 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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Research Resources

References

  • 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. Epub 2007 Jul 4. Citation on PubMed
  • 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. Epub 2004 Jan 25. Citation on PubMed
  • Emamian ES. AKT/GSK3 signaling pathway and schizophrenia. Front Mol Neurosci. 2012 Mar 15;5:33. doi: 10.3389/fnmol.2012.00033. eCollection 2012. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
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