Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The AKT2 gene ancodes a serine/threonine kinase that seems to be involved in signal transduction. It is also a putative oncogene. Two mutations are described so far a gain-of-function mutation causes hypoinsulinemic hypoglycemia and a loss-of-function mutation leads to diabetes type 2. Inheritance is autosomal dominant in both mutations.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Hussain K et al. (2011) An activating mutation of AKT2 and human hypoglycemia. 
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| 2. |
Cho H et al. (2001) Insulin resistance and a diabetes mellitus-like syndrome in mice lacking the protein kinase Akt2 (PKB beta).
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| 3. |
Peng XD et al. (2003) Dwarfism, impaired skin development, skeletal muscle atrophy, delayed bone development, and impeded adipogenesis in mice lacking Akt1 and Akt2.
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| 4. |
Garofalo RS et al. (2003) Severe diabetes, age-dependent loss of adipose tissue, and mild growth deficiency in mice lacking Akt2/PKB beta.
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| 5. |
Cheng JQ et al. (1992) AKT2, a putative oncogene encoding a member of a subfamily of protein-serine/threonine kinases, is amplified in human ovarian carcinomas.
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| 6. |
Woulfe D et al. (2004) Defects in secretion, aggregation, and thrombus formation in platelets from mice lacking Akt2.
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| 7. |
George S et al. (2004) A family with severe insulin resistance and diabetes due to a mutation in AKT2.
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| 8. |
Li X et al. (2007) Akt/PKB regulates hepatic metabolism by directly inhibiting PGC-1alpha transcription coactivator.
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| 9. |
Semple RK et al. (2009) Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.
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| 10. |
None (1987) Molecular cloning of the akt oncogene and its human homologues AKT1 and AKT2: amplification of AKT1 in a primary human gastric adenocarcinoma.
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| 11. |
Cheng JQ et al. (1996) Amplification of AKT2 in human pancreatic cells and inhibition of AKT2 expression and tumorigenicity by antisense RNA.
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| 12. |
Altomare DA et al. (1996) Chromosome mapping of the mouse Akt2 gene and Akt2 pseudogene.
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| 13. |
Orphanet article Orphanet ID 201112
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| 14. |
NCBI article NCBI 208
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| 15. |
OMIM.ORG article Omim 164731
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| 16. |
Wikipedia article Wikipedia EN (AKT2)
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