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.

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]

细丝蛋白 A： 该基因编码的蛋白质是一种肌动蛋白结合蛋白，可交联肌动蛋白丝并将肌动蛋白丝连接到膜糖蛋白上。编码的蛋白质参与重塑细胞骨架以影响细胞形状和迁移的变化。这种蛋白质与整合素、跨膜受体复合物和第二信使相互作用。该基因的缺陷是多种综合征的原因，包括脑室周围结 …

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.

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. It is involved in signal transduction, cell proliferation and differentiation, pseudopodia formation, ves …

2021年9月30日 · Clinical characteristics: 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 ...

The FLNA gene encodes filamin A, a widely expressed 280-kD actin-binding protein that regulates reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and second messengers.

FLNA是细胞内的正常存在的一种支架蛋白；既往研究表明这可能是多种肿瘤的诊断和预后标志物之一。然而，如果在脑内的FLNA发生了结构的改变，则很有可能参与AD的病理生理过程，成为除β淀粉样蛋白、tau蛋白之外的第三大元凶。

Filamin A（FLNa）是一种肌动蛋白结合蛋白，它参与细胞骨架的形成，将多种蛋白质锚定在细胞骨架中并调节细胞粘附和迁移。 它通过与相互作用的蛋白结合而参与信号转导，细胞增殖和分化，假足形成，囊泡运输，肿瘤抗性和遗传疾病。