AMOTL1
Description
The AMOTL1 gene encodes Angiomotin-like 1, a protein involved in cell-cell adhesion and angiogenesis. It plays a crucial role in regulating the organization of the actin cytoskeleton, a network of protein fibers that provides structural support and facilitates cell movement. AMOTL1 interacts with various proteins, including the angiomotin family and the protein kinase C (PKC) pathway, to control cell adhesion, migration, and vascular development. Mutations in AMOTL1 have been linked to developmental defects and disease.
Associated Diseases
- Developmental defects, including microcephaly and neural tube defects
- Vascular abnormalities, such as aneurysms and vascular malformations
- Cancer, particularly glioblastoma and breast cancer
- Cardiovascular diseases, including atherosclerosis
Did you know?
AMOTL1 is highly expressed in the developing brain and plays a critical role in neuronal migration and axon guidance.
