dysferlin
| UniProt | Protein Name |
|---|---|
| A0A0N4SUN3 |
|
| A0A0N4SV63 |
|
| A0A0N4SWH3 |
|
| E9QL12 |
|
| A0A0N4SUJ2 |
|
| E9PXU9 |
|
| E9Q423 |
|
| Q9ESD7 |
|
| A0A0N4SVX9 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein polyubiquitination | ||
| angiogenesis | ||
| plasma membrane repair | ||
| plasma membrane repair | ||
| plasma membrane repair |
| GO Term | Evidence Code | PMID |
|---|---|---|
| calcium ion binding | ||
| calcium ion binding | ||
| protein binding | ||
| phospholipid binding | ||
| phospholipid binding |
| Gene Ontology |
|---|
| T-tubule organization |
| plasma membrane repair |
| InterPro |
|---|
| C2 domain superfamily |
| C2 domain |
| Ferlin family |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B | |
| DOID:11720 | distal myopathy |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025