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🧬 基因注释:ABCD3

📝 官方信息

官方名称:ATP binding cassette subfamily D member 3

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 ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.474 · 证据 2 条
  • PTBP1 综合评分: 0.460 · 证据 2 条
  • HNRNPM 综合评分: 0.448 · 证据 2 条
  • Tardbp 综合评分: 0.413 · 证据 1 条
  • HNRNPA1 综合评分: 0.412 · 证据 2 条
  • HNRNPK 综合评分: 0.362 · 证据 2 条
  • HNRNPA2B1 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
  • EWSR1 综合评分: 0.312 · 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
  • 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
  • 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
  • MATR3 综合评分: 0.262 · 证据 1 条
🏥 关联疾病

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