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🧬 基因注释:ALG11

📝 官方信息

官方名称:ALG11 alpha-1,2-mannosyltransferase

功能摘要:This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.448 · 证据 2 条
  • Tardbp 综合评分: 0.392 · 证据 1 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • HNRNPH1 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
  • HNRNPU 综合评分: 0.300 · 证据 2 条
  • KHSRP 综合评分: 0.300 · 证据 2 条
  • PTBP1 综合评分: 0.300 · 证据 2 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • SRSF2 综合评分: 0.300 · 证据 1 条
  • SRSF9 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • Nova2 综合评分: 0.298 · 证据 1 条
  • PRPF8 综合评分: 0.298 · 证据 1 条
  • CSTF2 综合评分: 0.274 · 证据 2 条
  • PCBP2 综合评分: 0.262 · 证据 1 条
  • EWSR1 综合评分: 0.250 · 证据 2 条
  • RBM10 综合评分: 0.250 · 证据 2 条
  • RBM15 综合评分: 0.250 · 证据 2 条
🏥 关联疾病

该基因暂无关联疾病记录

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