Proteinkinase Akt-2
Das AKT2-gen kodiert eine Serin/Threonin kinases, die bei der Signaltransduktion beteiligt und auch als Onkogen bekannt ist. Zwei pathogenetisch bedeutsame Mutationen sind bisher beschrieben. Eine funtionsmindernde Mutation führt zu einem Typ 2 Diabetes und eine funktionssteigernde Mutation ruft Hypoinsulinämische Hypoglycämie hervor. Beide Vererbungsmuster sind autosomal dominant.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020