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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
centronuclear myopathy
Summary
- Synonym
-
- myotubular myopathy
- Definition
- A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.
- Super Class
- congenital structural myopathy
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6517 | SLC2A4 | solute carrier family 2 member 4 | |
| 8776 | MTMR1 | myotubularin related protein 1 | |
| 8898 | MTMR2 | myotubularin related protein 2 | |
| 9107 | MTMR6 | myotubularin related protein 6 | |
| 9108 | MTMR7 | myotubularin related protein 7 | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10462 | CLEC10A | C-type lectin domain containing 10A | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q12889 | Oviduct-specific glycoprotein | |
| Q13613 | Myotubularin-related protein 1 | |
| Q13614 | Myotubularin-related protein 2 | |
| Q8IUN9 | C-type lectin domain family 10 member A | |
| Q8NCE2 | Myotubularin-related protein 14 | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9Y259 | Choline/ethanolamine kinase | |
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
