PFN1
Description
The PFN1 (profilin 1) is a protein-coding gene located on chromosome 17.
Profilin-1 is a protein encoded by the PFN1 gene in humans. It is a ubiquitous actin monomer-binding protein that regulates actin polymerization in response to extracellular signals. Deletion of the PFN1 gene is associated with Miller-Dieker syndrome, and mutations in the gene can contribute to amyotrophic lateral sclerosis (Lou Gehrig's disease).
Profilin-1 regulates actin polymerization, a key process in cytoskeletal structure. It can either enhance or inhibit actin polymerization depending on its concentration. Profilin-1 also binds to PIP2, inhibiting the formation of IP3 and DG. Additionally, it inhibits the aggregation of androgen receptor (AR) and HTT, with the binding of G-actin being essential for its AR inhibitory function.
PFN1 is also known as ALS18.
