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🧬 基因注释:ABCG5

📝 官方信息

官方名称:ATP binding cassette subfamily G member 5

功能摘要:The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
  • HNRNPK 综合评分: 0.362 · 证据 2 条
  • HNRNPL 综合评分: 0.362 · 证据 2 条
  • RBFOX2 综合评分: 0.362 · 证据 2 条
  • HNRNPC 综合评分: 0.350 · 证据 2 条
  • SRSF9 综合评分: 0.300 · 证据 1 条
  • TIA1 综合评分: 0.250 · 证据 1 条
  • MATR3 综合评分: 0.200 · 证据 1 条
  • PCBP2 综合评分: 0.200 · 证据 1 条
  • PRPF8 综合评分: 0.200 · 证据 1 条
  • SF3A3 综合评分: 0.200 · 证据 1 条
  • U2af2 综合评分: 0.162 · 证据 1 条
  • AQR 综合评分: 0.150 · 证据 1 条
  • PRPF4 综合评分: 0.150 · 证据 1 条
  • Srsf1 综合评分: 0.150 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
  • SAFB 综合评分: 0.100 · 证据 1 条
  • Srsf7 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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