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🧬 基因注释:LFNG

📝 官方信息

官方名称:LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

功能摘要:This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018].

🎯 作为靶基因的剪接因子
  • Tardbp 综合评分: 0.434 · 证据 1 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPL 综合评分: 0.300 · 证据 2 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • fus 综合评分: 0.300 · 证据 1 条
  • NOVA1 综合评分: 0.200 · 证据 2 条
  • PCBP2 综合评分: 0.200 · 证据 1 条
  • Rnps1 综合评分: 0.162 · 证据 1 条
  • MSI1 综合评分: 0.150 · 证据 1 条
  • Srsf1 综合评分: 0.150 · 证据 1 条
  • CSTF2T 综合评分: 0.100 · 证据 2 条
  • EIF4A3 综合评分: 0.100 · 证据 2 条
  • Rbm7 综合评分: 0.100 · 证据 1 条
  • YBX1 综合评分: 0.100 · 证据 1 条
🏥 关联疾病

该基因暂无关联疾病记录

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