Entrez gene ID | | 2316 |
Official gene symbol | | FLNA |
Full name | | filamin A, alpha |
Aliases | | ,ABP-280,ABPX,DKFZp434P031,FLN,FLN1,FMD,MNS,NHBP,OPD,OPD1,OPD2, |
Gene summary | | 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. |
Location | | Chromosome: X Locus: Xq28 |
Gene position | | 153603006 - 153576900 Map Viewer |
Gene orientation | | minus |
Gene size | | 26107 bp |
Gene sequence |
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OMIM ID | | 300017 |
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