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🧬 基因注释:P4HB

📝 官方信息

官方名称:prolyl 4-hydroxylase subunit beta

功能摘要:This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.592 · 证据 2 条
  • RBFOX2 综合评分: 0.486 · 证据 2 条
  • PTBP1 综合评分: 0.474 · 证据 2 条
  • Tardbp 综合评分: 0.465 · 证据 1 条
  • HNRNPA2B1 综合评分: 0.412 · 证据 2 条
  • HNRNPM 综合评分: 0.412 · 证据 2 条
  • FUS 综合评分: 0.398 · 证据 1 条
  • HNRNPL 综合评分: 0.398 · 证据 2 条
  • Srsf3 综合评分: 0.398 · 证据 1 条
  • fus 综合评分: 0.398 · 证据 1 条
  • TIA1 综合评分: 0.374 · 证据 1 条
  • Srsf2 综合评分: 0.362 · 证据 1 条
  • Nova2 综合评分: 0.360 · 证据 1 条
  • Rnps1 综合评分: 0.353 · 证据 1 条
  • HNRNPA1 综合评分: 0.350 · 证据 2 条
  • HNRNPH1 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • Mbnl2 综合评分: 0.324 · 证据 1 条
  • UPF1 综合评分: 0.314 · 证据 1 条
  • RBM10 综合评分: 0.312 · 证据 2 条
🏥 关联疾病

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