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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Meckel syndrome
Summary
- Synonym
-
- Meckel-Gruber syndrome
- Definition
- A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.
- Super Class
- ciliopathy
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2719 | GPC3 | glypican 3 | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5311 | PKD2 | polycystin 2, transient receptor potential cation channel | |
| 5321 | PLA2G4A | phospholipase A2 group IVA | |
| 5335 | PLCG1 | phospholipase C gamma 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P52209 | 6-phosphogluconate dehydrogenase, decarboxylating | |
| P98161 | Polycystin-1 | |
| Q13563 | Polycystin-2 | |
| Q14697 | Neutral alpha-glucosidase AB | |
| Q6Y288 | Beta-1,3-glucosyltransferase | |
| Q7Z442 | Polycystin-1-like protein 2 | |
| Q7Z443 | Polycystin-1-like protein 3 | |
| Q9H1B5 | Xylosyltransferase 2 | |
| Q9H6U8 | Alpha-1,2-mannosyltransferase ALG9 | |
| Q9NRR6 | Phosphatidylinositol polyphosphate 5-phosphatase type IV |
