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tubular aggregate myopathy 1
Summary
- Definition
- A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15.
- Super Class
- autosomal dominant disease myopathy
External Links
- Disease Ontology
- DOID:0080089
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 2673 | GFPT1 | glutamine--fructose-6-phosphate transaminase 1 | |
| 4534 | MTM1 | myotubularin 1 | |
| 5016 | OVGP1 | oviductal glycoprotein 1 | |
| 10462 | CLEC10A | C-type lectin domain containing 10A | |
| 23409 | SIRT4 | sirtuin 4 | |
| 64419 | MTMR14 | myotubularin related protein 14 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06210 | Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 | |
| Q12889 | Oviduct-specific glycoprotein | |
| Q8IUN9 | C-type lectin domain family 10 member A | |
| Q8NCE2 | Myotubularin-related protein 14 |
