Biological Activity
Formin-1 (FMN1) is responsible for the polymerization of actin filaments. It interacts with α-catenin and moves to nascent adherens junctions, where it nucleates actin filaments. Thus, it plays an essential role in the formation of cell-cell junctions by mediating adherens junction formation. Mutations in this gene in mouse, give rise to recessively inherited murine limb deformity, which is characterized by limb deformity or renal aplasia. Studies have shown th at mutation in FMN1 gene in humans gives rise to oligosyndactyly, renal defects, radioulnar synostosis and hearing loss. This phenotype is similar to mice limb deformity. Duplication in this gene has been found in a patient with Cenani-Lenz-like oligosyndactyly of the hands.
