AGAP2
Description
The AGAP2 gene (ArfGAP with GTPase domain, Ankyrin repeat and PH domain 2) encodes a protein that plays a crucial role in regulating the actin cytoskeleton. AGAP2 acts as a GTPase-activating protein (GAP) for the ADP-ribosylation factor (ARF) family of small GTPases, which are involved in various cellular processes, including membrane trafficking, signal transduction, and cytoskeletal dynamics. AGAP2 specifically targets ARF6, a key regulator of actin polymerization and membrane ruffling. Through its GAP activity, AGAP2 modulates ARF6 activity, thereby influencing the organization and dynamics of the actin cytoskeleton. This regulation is essential for diverse cellular functions, including cell migration, adhesion, and endocytosis.
Associated Diseases
- Neurodevelopmental disorders: AGAP2 mutations have been linked to developmental delays, intellectual disability, and autism spectrum disorder.
- Cancer: Studies have implicated AGAP2 in tumorigenesis and metastasis in various cancer types, including breast cancer and colorectal cancer.
- Cardiovascular disease: AGAP2 has been associated with heart development and function, and its dysregulation may contribute to cardiovascular disease.
Did you know?
AGAP2 is highly expressed in the brain, suggesting its involvement in neuronal development and function.
