Literature associating GSN and Cole-Carpenter syndrome
Actin-depolymerizing factor; Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed. Plays a role in ciliogenesis; Gelsolin/villins
Synonyms: GSN, P06396, Q5T0H7, Q5T0H8, Q5T0H9 ...