AFAP1L2
Exploring AFAP1L2: A Key Player in Cellular Function
Description
AFAP1L2 (actin filament-associated protein 1-like 2) is a protein that plays a crucial role in organizing the cytoskeleton, a network of fibers responsible for maintaining cell shape and facilitating cell movement. By aligning and bundling actin filaments, the building blocks of the cytoskeleton, AFAP1L2 ensures the structural integrity and proper functioning of cells.
Associated Diseases
Mutations in the AFAP1L2 gene have been linked to a number of genetic disorders, including:
- Joubert syndrome: A rare genetic disorder characterized by developmental brain abnormalities, such as an underdeveloped cerebellum and vermis.
- Asphyxiating thoracic dystrophy (ATD): A severe form of dwarfism caused by rib cage deformities that restrict lung development.
- Congenital heart defects: Mutations in AFAP1L2 have been associated with an increased risk of certain heart defects, such as atrial and ventricular septal defects.
- Neurological disorders: In addition to Joubert syndrome, AFAP1L2 mutations have been linked to other neurological disorders, such as autism spectrum disorder and intellectual disability.
Did you Know ?
Mutations in AFAP1L2 are estimated to account for approximately 20% of cases of Joubert syndrome, making it the most common genetic cause of this disorder.
