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V-akt murine thymoma viral oncogene homolog 2

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.

Genetests:

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

Related Diseases:

Hypoinsulinemic hypoglycemia
AKT2

References:

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 external link
14.

NCBI article

NCBI 208 external link
15.

OMIM.ORG article

Omim 164731 external link
16.

Wikipedia article

Wikipedia EN (AKT2) external link
Update: Aug. 14, 2020
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