ACRV1
Description
The ACRV1 gene encodes a protein known as the actin-related protein 1 (ARP1). ARP1 is a key component of the ARP2/3 complex, a crucial molecular machinery involved in the regulation of actin cytoskeleton dynamics. Actin filaments, the building blocks of the cytoskeleton, play vital roles in a wide range of cellular processes, including cell migration, division, adhesion, and intracellular transport. The ARP2/3 complex, with ARP1 as its core component, acts as a nucleation factor for the formation of new actin filaments, influencing their branching and organization. These dynamic actin structures provide the structural support and force generation necessary for various cellular functions.
Associated Diseases
- Cancer (e.g., breast cancer, colorectal cancer)
- Neurodevelopmental disorders (e.g., autism spectrum disorder, intellectual disability)
- Immune disorders (e.g., inflammatory bowel disease, rheumatoid arthritis)
- Cardiovascular diseases (e.g., heart failure, atherosclerosis)
Did you know?
Mutations in the ACRV1 gene can lead to a rare genetic disorder called "ARP1-related syndrome." This syndrome is characterized by a variety of developmental abnormalities, including intellectual disability, skeletal deformities, and immune system dysfunction.
