2002年10月8日 · FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilatation and rupture of the thoracic aorta, pulmonary disease (pulmonary hypertension ...

The FLNA gene provides instructions for producing the protein filamin A, which helps build cells' extensive internal network of protein filaments called the cytoskeleton. Learn about this gene and related health conditions.

Filamin A, encoded by the FLNA gene, is a widely expressed filamin that regulates the reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and secondary messengers. [7] At least 31 disease-causing mutations in this gene have been discovered. [8]

2024年12月25日 · FLNA (Filamin A) is a Protein Coding gene. Diseases associated with FLNA include Melnick-Needles Syndrome and Otopalatodigital Syndrome, Type Ii. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Signaling by Rho GTPases.

2021年6月5日 · FLNa is involved in signal transduction, cell proliferation and differentiation, cytoskeleton reorganization and cell migration, vesicle transport and angiogenesis. FLNa plays a vital role in genetic disease, tumor progression and pathogenic microorganism infection.

2021年6月5日 · Filamin A (FLNa) is an actin-binding protein, which participates in the formation of the cytoskeleton, anchors a variety of proteins in the cytoskeleton and regulates cell adhesion and migration.

The FLNA gene provides instructions for producing the protein filamin A, which helps build cells' extensive internal network of protein filaments called the cytoskeleton. The cytoskeleton gives structure to cells and allows them the flexibility to change shape.

Gene ID: 2316, updated on 9-Feb-2025. 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 …

2025年1月5日 · Filamin A (FLNA) modulates chemosensitivity to docetaxel in triple-negative breast cancer through the MAPK/ERK pathway. 47 patients with FLNA associated periventricular nodular heterotopia.

2019年10月17日 · FLNa is a large dimeric actin-binding protein that stabilizes actin filament networks; it was recently found to be involved in platelet production and platelet activation. This review is focused on the structure and functions of FLNa during platelet activation and megakaryocytopoiesis.