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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 |
|---|---|---|---|
| 5373 | PMM2 | phosphomannomutase 2 | |
| 5589 | PRKCSH | PRKCSH beta subunit of glucosidase II | |
| 5730 | PTGDS | prostaglandin D2 synthase | |
| 5742 | PTGS1 | prostaglandin-endoperoxide synthase 1 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 6401 | SELE | selectin E | |
| 9126 | SMC3 | structural maintenance of chromosomes 3 | |
| 23193 | GANAB | glucosidase II alpha subunit | |
| 23556 | PIGN | phosphatidylinositol glycan anchor biosynthesis class N | |
| 56623 | INPP5E | inositol polyphosphate-5-phosphatase E |
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 |
