The AFAP1 gene is located on chromosome 4 and is a protein-coding gene. It has multiple transcript variants encoding different isoforms . The protein itself is known to cross-link actin filaments into both network and bundle structures, which is essential for maintaining the cytoskeleton’s integrity .
AFAP1 is a Src binding partner, which means it interacts with Src family kinases. These interactions are vital for cellular signaling pathways that regulate various cellular processes, including cell adhesion, migration, and proliferation . AFAP1 can modulate changes in actin filament integrity in response to cellular signals, thereby playing a role in the formation of cellular structures like lamellipodia .
AFAP1 has been implicated in the development and progression of certain cancers, such as prostate adenocarcinoma. It regulates cell-matrix adhesions and migration in cancer cells, making it a potential target for cancer therapy . Additionally, diseases associated with AFAP1 include Multiple Mitochondrial Dysfunctions Syndrome 1 .
Recombinant human AFAP1 is used in various research applications to study its role in actin filament modulation and its interactions with other proteins. Understanding AFAP1’s function and mechanisms can provide insights into cellular processes and potential therapeutic targets for diseases involving cytoskeletal abnormalities .