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🧬 基因注释:HADHB

📝 官方信息

官方名称:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

功能摘要:This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.510 · 证据 2 条
  • PTBP1 综合评分: 0.444 · 证据 2 条
  • Tardbp 综合评分: 0.418 · 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
  • HNRNPA1 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
  • CELF2 综合评分: 0.310 · 证据 2 条
  • FUS 综合评分: 0.300 · 证据 1 条
  • HNRNPD 综合评分: 0.300 · 证据 2 条
  • HNRNPK 综合评分: 0.300 · 证据 2 条
  • HNRNPL 综合评分: 0.300 · 证据 2 条
  • RBFOX2 综合评分: 0.300 · 证据 2 条
  • SRSF3 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
  • PRPF8 综合评分: 0.298 · 证据 1 条
  • CSTF2 综合评分: 0.274 · 证据 2 条
  • Ptbp2 综合评分: 0.262 · 证据 1 条
🏥 关联疾病

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