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🧬 基因注释:XPNPEP3

📝 官方信息

官方名称:X-prolyl aminopeptidase 3

功能摘要:The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.[provided by RefSeq, Mar 2011].

🎯 作为靶基因的剪接因子
  • HNRNPC 综合评分: 0.412 · 证据 2 条
  • HNRNPA2B1 综合评分: 0.350 · 证据 2 条
  • HNRNPM 综合评分: 0.350 · 证据 2 条
  • MBNL1 综合评分: 0.350 · 证据 2 条
  • PCBP2 综合评分: 0.324 · 证据 1 条
  • RBM15 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
  • 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
  • SRSF2 综合评分: 0.300 · 证据 1 条
  • Srsf2 综合评分: 0.300 · 证据 1 条
  • fus 综合评分: 0.300 · 证据 1 条
  • EWSR1 综合评分: 0.250 · 证据 2 条
  • FUBP1 综合评分: 0.250 · 证据 2 条
  • Tardbp 综合评分: 0.248 · 证据 1 条
  • Rbmx 综合评分: 0.244 · 证据 1 条
  • CPSF6 综合评分: 0.212 · 证据 2 条
🏥 关联疾病

该基因暂无关联疾病记录

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