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🧬 基因注释:FLNA

📝 官方信息

官方名称:filamin A

功能摘要: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].

🎯 作为靶基因的剪接因子
  • FUS 综合评分: 0.474 · 证据 1 条
  • HNRNPC 综合评分: 0.474 · 证据 2 条
  • fus 综合评分: 0.474 · 证据 1 条
  • HNRNPK 综合评分: 0.444 · 证据 2 条
  • PTBP1 综合评分: 0.424 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • Srsf3 综合评分: 0.398 · 证据 1 条
  • RBFOX2 综合评分: 0.362 · 证据 2 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • HNRNPH1 综合评分: 0.350 · 证据 2 条
  • HNRNPM 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • QKI 综合评分: 0.350 · 证据 1 条
  • PCBP2 综合评分: 0.324 · 证据 1 条
  • Tardbp 综合评分: 0.324 · 证据 1 条
  • EWSR1 综合评分: 0.312 · 证据 2 条
  • RBM39 综合评分: 0.312 · 证据 2 条
  • TIA1 综合评分: 0.312 · 证据 1 条
  • HNRNPL 综合评分: 0.300 · 证据 2 条
  • HNRNPU 综合评分: 0.300 · 证据 2 条
🏥 关联疾病

该基因暂无关联疾病记录

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