Aliases for FLNA Gene
External Ids for FLNA Gene
Previous HGNC Symbols for FLNA Gene
Previous GeneCards Identifiers for FLNA Gene
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]
GeneCards Summary for FLNA Gene
FLNA (Filamin A, Alpha) is a Protein Coding gene. Diseases associated with FLNA include fibromuscular dysplasia and otopalatodigital syndrome, type i. Among its related pathways are MAPK signaling pathway and Proteoglycans in cancer. GO annotations related to this gene include protein homodimerization activity and signal transducer activity. An important paralog of this gene is FLNB.
UniProtKB/Swiss-Prot for FLNA Gene
Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNA 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 (By similarity). Involved in ciliogenesis.