Filamin A, Alpha (FLNA) ELISA Kit for Human

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

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: cortical cytoskeleton; focal adhesion; extracellular region; actin filament; trans-Golgi network; cytosol; actin cytoskeleton; membrane; cell soma; perinuclear region of cytoplasm; cytoplasm; plasma membrane; dendritic shaft; nucleus

Molecular Function: Rho GTPase binding; protein homodimerization activity; Rac GTPase binding; Ral GTPase binding; transcription factor binding; actin filament binding; small GTPase binding; signal transducer activity; protein binding; protein kinase C binding; mu-type opioid receptor binding; SMAD binding; glycoprotein binding

Biological Process: actin crosslink formation; platelet activation; positive regulation of I-kappaB kinase/NF-kappaB cascade; protein stabilization; negative regulation of transcription factor activity; mRNA transcription from RNA polymerase II promoter; receptor clustering; dopamine receptor, adenylate cyclase inhibiting pathway; establishment of protein localization; platelet degranulation; early endosome to late endosome transport; actin cytoskeleton reorganization; cytoplasmic sequestering of protein; positive regulation of transcription factor import into nucleus; cilium biogenesis; epithelial to mesenchymal transition; blood coagulation; negative regulation of protein catabolic process

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