🧬 基因注释：CRB1
📝 官方信息
官方名称：crumbs cell polarity complex component 1
功能摘要：This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012].
🎯 作为靶基因的剪接因子
- CPSF6 置信度: 2.0
- CSTF2 置信度: 2.0
- CSTF2T 置信度: 2.0
- EWSR1 置信度: 2.0
- HNRNPD 置信度: 2.0
- HNRNPL 置信度: 2.0
- KHSRP 置信度: 2.0
- PTBP1 置信度: 2.0
- RBM10 置信度: 2.0
- RBM20 置信度: 2.0
- CPSF1 置信度: 1.0
- CPSF2 置信度: 1.0
- ELAVL3 置信度: 1.0
- FUS 置信度: 1.0
- Ptbp2 置信度: 1.0
- Rbm7 置信度: 1.0
- Rbpms 置信度: 1.0
- Rnps1 置信度: 1.0
- Srsf7 置信度: 1.0
- Tardbp 置信度: 1.0
🏥 关联疾病
该基因暂无关联疾病记录