基因注释:PIGW
官方信息
官方名称:phosphatidylinositol glycan anchor biosynthesis class W
功能摘要:The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017].
作为靶基因的剪接因子
- HNRNPC 综合评分: 0.448 · 证据 2 条
- FUS 综合评分: 0.362 · 证据 1 条
- fus 综合评分: 0.362 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- Tardbp 综合评分: 0.274 · 证据 1 条
- FUBP1 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- TIA1 综合评分: 0.250 · 证据 1 条
- CPSF6 综合评分: 0.212 · 证据 2 条
- Rbmx 综合评分: 0.162 · 证据 1 条
- CPSF7 综合评分: 0.150 · 证据 2 条
- Srsf2 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- Rbm7 综合评分: 0.100 · 证据 1 条
- Rnps1 综合评分: 0.100 · 证据 1 条
- Srsf7 综合评分: 0.100 · 证据 1 条
- UPF1 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