| Tbio | Phosphatidylinositol N-acetylglucosaminyltransferase subunit P |
Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Prostatic Neoplasms | 495 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| Down syndrome | 499 | 1.3e-03 |
| Multiple myeloma | 1332 | 1.9e-03 |
| pancreatic cancer | 2398 | 2.6e-03 |
| primary pancreatic ductal adenocarcinoma | 1109 | 4.9e-03 |
| osteosarcoma | 7950 | 1.1e-02 |
| lung cancer | 4740 | 2.6e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Iridogoniodysgenesis syndrome | 9 | 4.195 | 2.1 |
| Gastroparesis | 22 | 3.972 | 2.0 |
| Disease | log2 FC | p |
|---|---|---|
| Down syndrome | 1.100 | 1.3e-03 |
| lung cancer | 1.200 | 2.6e-02 |
| Multiple myeloma | 1.741 | 1.9e-03 |
| osteosarcoma | 1.221 | 1.1e-02 |
| pancreatic cancer | -1.300 | 2.6e-03 |
| primary pancreatic ductal adenocarcinoma | -1.258 | 4.9e-03 |
