AKT3 : AKT serine/threonine kinase 3
The AKT3 Gene: A Key Player in Brain Development and Function
Introduction
The AKT3 gene holds the blueprint for a protein that plays a pivotal role in the intricate workings of the human nervous system. This protein, aptly named AKT3, is a central regulator of the PI3K-AKT-mTOR signaling pathway, a molecular cascade that orchestrates crucial cellular functions.
Function of AKT3
AKT3 exerts its influence over a multitude of cellular processes, including:
- Protein Synthesis: AKT3 facilitates the creation of new proteins, the building blocks of cells.
- Cell Proliferation: AKT3 promotes the multiplication of cells, essential for growth and development.
- Cell Survival: AKT3 safeguards cells from dying, ensuring the longevity of vital tissues.
PI3K-AKT-mTOR Pathway
The PI3K-AKT-mTOR signaling pathway, of which AKT3 is a key player, is a complex network that transmits signals from the cell‘s exterior to its interior. This pathway is vital for the proper development and function of the brain and other organs.
Role in Brain Development
Studies have unveiled AKT3‘s critical contribution to brain size. Research suggests that mutations in the AKT3 gene can lead to microcephaly, a condition characterized by an abnormally small brain. Conversely, increased AKT3 activity has been associated with macrocephaly, a condition with an abnormally large brain.
Associated Diseases
Disruptions in AKT3 function have been linked to several neurological disorders, including:
- Microcephaly: Insufficient AKT3 activity can hinder brain development, leading to microcephaly.
- Macrocephaly: Excessive AKT3 activity can contribute to macrocephaly, resulting in an enlarged brain.
- Autism Spectrum Disorder (ASD): AKT3 may play a role in the development of ASD, although further research is needed.
Did you Know ?
Almost 1 in 30,000 individuals worldwide is affected by microcephaly, a condition often associated with mutations in the AKT3 gene.
