The AKT1 gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome and Cowden-like syndrome. To read more about Cowden syndrome, visit the PTEN- Cowden Syndrome page.
AKT1 is also associated with Proteus syndrome (PS), a rare condition characterized by overgrowth of the bones, skin, and other tissues. Features include progressive, segmental or patchy overgrowth typically affecting the skeleton, skin, adipose and central nervous system. Because affected individuals are mosaic (that is, while the causative variant may be present in some cells, it may be absent from others), testing for PS by blood is not recommended.
The AKT1 gene belongs to a class of genes known as oncogenes. When mutated, oncogenes have the potential to cause normal cells to become cancerous.
The AKT1 gene provides instructions for making a protein called AKT1 kinase. This protein is found in various cell types throughout the body, where it plays a critical role in many signaling pathways. For example, AKT1 kinase helps regulate cell growth and division (proliferation), the process by which cells mature to carry out specific functions (differentiation), and cell survival. AKT1 kinase also helps control apoptosis, which is the self-destruction of cells when they become damaged or are no longer needed.
Signaling involving AKT1 kinase appears to be essential for the normal development and function of the nervous system. Studies have suggested a role for AKT1 kinase in cell-to-cell communication among nerve cells (neurons), neuronal survival, and the formation of memories.