🧬 基因注释：PIGV
📝 官方信息
官方名称：phosphatidylinositol glycan anchor biosynthesis class V
功能摘要：This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011].
🎯 作为靶基因的剪接因子
- PTBP1 综合评分: 0.444 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- Tardbp 综合评分: 0.372 · 证据 1 条
- FUS 综合评分: 0.362 · 证据 1 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- fus 综合评分: 0.362 · 证据 1 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- Ptbp2 综合评分: 0.262 · 证据 1 条
- RBM15 综合评分: 0.250 · 证据 2 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- NXF1 综合评分: 0.162 · 证据 1 条
- Rbm7 综合评分: 0.162 · 证据 1 条
- Srsf1 综合评分: 0.150 · 证据 1 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- Srsf3 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- Rbmx 综合评分: 0.100 · 证据 1 条
- Rbpms 综合评分: 0.100 · 证据 1 条
- Rnps1 综合评分: 0.100 · 证据 1 条
🏥 关联疾病
该基因暂无关联疾病记录