FLNA Antibody (Y1046) Blocking Peptide

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.[provided by RefSeq, Mar 2009]

FLNA: a ubiquitous cytoskeletal protein that promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Plays an essential role in embryonic cell migration. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interactions with filamin A may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellular trafficking.

Protein type: Motility/polarity/chemotaxis; Actin-binding; Nuclear receptor co-regulator

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: actin cytoskeleton; cytoplasm; cytosol; extracellular region; filamentous actin; focal adhesion; intercellular junction; membrane; nucleolus; nucleus; plasma membrane

Molecular Function: actin filament binding; G-protein-coupled receptor binding; glycoprotein binding; GTPase binding; kinase binding; protein binding; protein homodimerization activity; Rac GTPase binding; Ral GTPase binding; Rho GTPase binding; signal transducer activity; small GTPase binding; transcription factor binding

Biological Process: actin crosslink formation; actin cytoskeleton reorganization; cilium biogenesis; cytoplasmic sequestering of protein; dopamine receptor, adenylate cyclase inhibiting pathway; establishment of protein localization; negative regulation of apoptosis; negative regulation of protein catabolic process; negative regulation of transcription factor activity; negative regulation of transcription from RNA polymerase I promoter; platelet activation; platelet degranulation; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of transcription factor import into nucleus; protein stabilization; receptor clustering; regulation of cell migration

Disease: Cardiac Valvular Dysplasia, X-linked; Fg Syndrome 2; Frontometaphyseal Dysplasia; Heterotopia, Periventricular, Ehlers-danlos Variant; Heterotopia, Periventricular, X-linked Dominant; Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-linked; Melnick-needles Syndrome; Otopalatodigital Syndrome, Type I; Otopalatodigital Syndrome, Type Ii; Terminal Osseous Dysplasia