Claim: Profilin 1 (encoded by the PFN1 gene) encoded by this gene is a ubiquitous actin and is thought to deregulate actin polymerization and it is associated with Miller-Dieker syndrome.
Evidence: Profilin-1 is a protein that in humans is encoded by the PFN1 gene. The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals.