基因名:
FLNA
产品别名:
ABP-280; ABPX; CSBS; CVD1; FGS2; FLN; FLN-A; FLN1; FMD; MNS; NHBP; OPD; OPD1; OPD2; XLVD; XMVD; FLNA; filamin A; filamin A; filamin-A; actin binding protein 280; alpha-filamin; endothelial actin-binding protein; epididymis secretory sperm binding protein; filamin A, alpha; filamin-1; non-muscle filamin; 丝蛋白Aα(FLNa); 磷酸化细丝蛋白A; 细丝蛋白A;
背景信息:
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]