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.