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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 |
|---|---|---|---|
| 23409 | SIRT4 | sirtuin 4 | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 55613 | MTMR8 | myotubularin related protein 8 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 64419 | MTMR14 | myotubularin related protein 14 | |
| 79147 | FKRP | fukutin related protein |
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 |
