title: Structure of the human filamin A actin-binding domain.
abstract: Filamin A (FLNa) is a large dimeric protein that binds to actin filaments via its actin-binding domain (ABD). The crystal structure of this domain was solved at 3.2 A resolution. The domain adopts a closed conformation typical of other ABDs, but also forms a dimer both in crystallization conditions and in solution. The structure shows the localization of the residues mutated in patients with periventricular nodular heterotopia or otopalatodigital syndrome. Structural analysis predicts that mutations in both types of disorder may affect actin binding.
authors.affiliation: The Department of Biological and Environmental Science, University of Jyväskylä, FIN-40014 Jyväskylä, Finland. salla.ruskamo@jyu.fi
authors.forename: Salla
authors.initials: S
authors.lastname: Ruskamo
authors.forename: Jari
authors.initials: J
authors.lastname: Ylänne
mesh_terms: D000199:Actins / Q000737:chemistry* / Q000378:metabolism; D003285:Contractile Proteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism; D018360:Crystallography, X-Ray; D064448:Filamins; D006801:Humans; D008840:Microfilament Proteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism; D008958:Models, Molecular; D009154:Mutation; D011485:Protein Binding; D054730:Protein Interaction Domains and Motifs; D020836:Protein Structure, Quaternary; D040681:Structural Homology, Protein
chemical_list: D000199:Actins; D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins