🧬 基因注释:PIGG
📝 官方信息
官方名称:phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
功能摘要:This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].
🎯 作为靶基因的剪接因子
- HNRNPM 综合评分: 0.448 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- HNRNPC 综合评分: 0.412 · 证据 2 条
- HNRNPK 综合评分: 0.362 · 证据 2 条
- HNRNPL 综合评分: 0.362 · 证据 2 条
- RBFOX2 综合评分: 0.362 · 证据 2 条
- Srsf3 综合评分: 0.362 · 证据 1 条
- HNRNPA1 综合评分: 0.350 · 证据 2 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- Tardbp 综合评分: 0.346 · 证据 1 条
- FUS 综合评分: 0.300 · 证据 1 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- PTBP1 综合评分: 0.300 · 证据 2 条
- SRSF3 综合评分: 0.300 · 证据 1 条
- SRSF9 综合评分: 0.300 · 证据 1 条
- fus 综合评分: 0.300 · 证据 1 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- FUBP1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
🏥 关联疾病
该基因暂无关联疾病记录