🧬 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
- CPSF6 置信度: 2.0
- CPSF7 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- EWSR1 置信度: 2.0
- FUBP1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPD 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- KHSRP 置信度: 2.0
- MBNL1 置信度: 2.0
- PTBP1 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- RBM20 置信度: 2.0
- CPSF1 置信度: 1.0
- CPSF2 置信度: 1.0
- CPSF3 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录