Synonyms: ABP 280,ABP-280,Actin-binding protein 280,Alpha filamin,Alpha-filamin,APBX,CSBS,CVD1,Endothelial actin binding protein,Endothelial actin-binding protein,Filamin 1,Filamin A alpha,Filamin A,Filamin-1,Filamin-A,FLN,FLN-A,FLN1,FLNA,FLNA,FMD,MNS,NHBP,Non muscle filamin,Non-muscle filamin,OPD,OPD1,OPD2,XLVD,XMVD
Background: The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.