Akt1 Gene

AKT1 (AKT Serine / Threonine Kinase 1) is a gene located on chromosome 14q32.33 that encodes AKT serine-threonine protein kinase 1. Originally, AKT1 was identified as an oncogene in the transforming retrovirus AKT8.

The AKT1 protein is one of 3 closely related serine/threonine protein k inases (AKT1 kinae, AKT2 kinaeand AKT3 kinase) collectively referred to as AKT serine-threonine kinases. AKT serine-threonine kinases regulate many processes, including metabolism, proliferation, cell survival, growth, and angiogenesis. Thus, AKT1 is an important mediator of growth factor-induced neuronal survival. Furthermore, serine / threonine protein kinases appear to play a significant role in mediating growth signaling. AKT1 and the related AKT2 are activated by phosphatidylinositol 3-kinase, a platelet-induced growth factor.

The diseases associated with mutations in AKT1 include Proteus syndrome and Cowden syndrome.

Proteus syndrome is characterized by an asymmetrical growth disorder that only becomes apparent during childhood. At the age of 2-4 years, individual areas of the body, for example toes or an entire limb, begin to grow excessively. A nevus cerebriformis with excessive tissue growth can occur, particularly on the soles of the feet, which superficially resembles brain furrows. In the course of the disease, severe impairments often occur due to the mosaic-like growth over the entire body. Intelligence is typically normal. Asymmetric growth disorders can be caused by activating ("gain of function") mosaic mutations in genes that lead to increased cell division and thus to increased tissue growth and interact in the so-called PI3K/AKT signaling pathway.