🧬 基因注释：PIGP
官方名称：phosphatidylinositol glycan anchor biosynthesis class P
功能摘要：This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016].
- CPSF7 置信度: 2.0
- FUBP3 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPH1 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPU 置信度: 2.0
- RBFOX2 置信度: 2.0
- RBM15 置信度: 2.0
- CPSF2 置信度: 1.0
- FUS 置信度: 1.0
- NXF1 置信度: 1.0
- PRPF8 置信度: 1.0
- Rbm7 置信度: 1.0
- Rbmx 置信度: 1.0
- Rnps1 置信度: 1.0
- SF3A3 置信度: 1.0
- SMNDC1 置信度: 1.0
- Srsf2 置信度: 1.0
- U2af1 置信度: 1.0
- U2af2 置信度: 1.0
该基因暂无关联疾病记录