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🧬 基因注释:MID1

📝 官方信息

官方名称:midline 1

功能摘要:The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.494 · 证据 2 条
  • HNRNPH1 综合评分: 0.412 · 证据 2 条
  • Srsf3 综合评分: 0.362 · 证据 1 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
  • Nova2 综合评分: 0.324 · 证据 1 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
  • PTBP1 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
  • fus 综合评分: 0.300 · 证据 1 条
  • CSTF2 综合评分: 0.274 · 证据 2 条
  • Tardbp 综合评分: 0.274 · 证据 1 条
  • NOVA1 综合评分: 0.262 · 证据 2 条
  • EWSR1 综合评分: 0.250 · 证据 2 条
🏥 关联疾病

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