AKT1
AKT1 is a gene that plays a critical role in various cellular processes, including metabolism, cell proliferation, cell survival, growth, and angiogenesis. It is part of the PI3K/AKT/mTOR pathway, a signaling pathway that is vital for cellular growth and survival. This pathway is often dysregulated in various types of cancer, making AKT1 a significant focus of oncology research.
Function
AKT1 encodes a serine/threonine protein kinase that is activated by phosphorylation in response to various growth factors and hormones. Once activated, AKT1 phosphorylates a wide range of substrates involved in the regulation of cell survival, cell cycle progression, and apoptosis (programmed cell death). This kinase plays a key role in preventing apoptosis induced by cellular stress or damage, thereby promoting cell survival and growth.
Clinical Significance
The AKT1 gene is implicated in several human diseases, most notably in cancer. Mutations and amplifications of AKT1 have been identified in a variety of cancers, including breast cancer, ovarian cancer, and lung cancer. These alterations lead to the hyperactivation of the AKT1 kinase, promoting uncontrolled cell growth and survival, which are hallmarks of cancer. As such, AKT1 is a target for cancer therapy, with several inhibitors being developed to block its activity.
In addition to cancer, AKT1 mutations have been associated with other conditions, such as the Proteus syndrome, a rare disorder characterized by overgrowth of tissues and organs. The precise role of AKT1 in this condition is still under investigation.
AKT1 and Cancer Therapy
Given its central role in cell survival and growth, AKT1 is a promising target for cancer therapy. Inhibitors of AKT1 are being developed and tested in clinical trials, with the aim of blocking the aberrant signaling pathway in cancer cells. These inhibitors have the potential to suppress tumor growth and enhance the effectiveness of existing cancer treatments.
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Contributors: Prab R. Tumpati, MD