AFAP1
AFAP1: A Protein Essential for Cell Division and Tissue Development
Description:
AFAP1 (Actin Filament-Associated Protein 1) is a multifunctional protein that plays a crucial role in actin filament dynamics, cell division, and tissue development. It is a 130 kDa protein that localizes to the leading edge of migrating cells and to the spindle poles during mitosis.
Associated Diseases:
Mutations in AFAP1 have been linked to several human diseases, including:
- Coffin-Siris syndrome: A rare genetic disorder characterized by distinctive facial features, intellectual disability, and developmental delays.
- Microcephaly: A birth defect characterized by an abnormally small head circumference.
- Autism spectrum disorder: A neurodevelopmental disorder characterized by difficulties with social interaction and communication.
Did you Know ?
- Mutations in AFAP1 are estimated to occur in 1 in 100,000 individuals.
