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]

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 ...

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 …

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 …

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.

编码丝状蛋白a（flna）的基因突变会导致多种类型的疾病，包括室旁结节性异位，骨骼发育异常，心血管异常和凝血病等。 最近发现FLNA突变还与肺部疾病有关。

细丝蛋白A（filamin A，FLNa）是在非肌性细胞中发现的第一个肌动蛋白交联蛋白。 其可与90多种配体结合，包括通路蛋白、细胞内信号分子及转录因子等，具有整合细胞力学和信号转导的作用。

研究人员通过将雄性(Flna o/fl/LC)小鼠骨髓移植到致动脉粥样硬化性低密度脂蛋白受体缺陷(Ldlr-/-)小鼠体内，和AdPCSK9(腺病毒载体过表达原蛋白转化酶subtilisin/kexin 9型)感染Flna o/fl 和 Flna o/fl/LC 小鼠 ，来研究体内动脉粥样硬化。

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。