🧬 基因注释：PEX16
📝 官方信息
官方名称：peroxisomal biogenesis factor 16
功能摘要：The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008].
🎯 作为靶基因的剪接因子
- CPSF6 置信度: 2.0
- EIF4A3 置信度: 2.0
- GRSF1 置信度: 2.0
- HNRNPA2B1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPH1 置信度: 2.0
- HNRNPK 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
- AQR 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbmx 置信度: 1.0
- Rnps1 置信度: 1.0
- SF3A3 置信度: 1.0
- Srsf1 置信度: 1.0
- U2af1 置信度: 1.0
- U2af2 置信度: 1.0
- UPF1 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录