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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 |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 952 | CD38 | CD38 molecule | |
| 1103 | CHAT | choline O-acetyltransferase | |
| 1120 | CHKB | choline kinase beta | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 2218 | FKTN | fukutin | |
| 2673 | GFPT1 | glutamine--fructose-6-phosphate transaminase 1 | |
| 3423 | IDS | iduronate 2-sulfatase | |
| 4534 | MTM1 | myotubularin 1 | |
| 5016 | OVGP1 | oviductal glycoprotein 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 |
