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junctional epidermolysis bullosa
Summary
- Synonym
-
- congenital junctional epidermolysis bullosa
- Definition
- An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.
- Super Class
- epidermolysis bullosa
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1308 | COL17A1 | collagen type XVII alpha 1 chain | |
| 3655 | ITGA6 | integrin subunit alpha 6 | |
| 3675 | ITGA3 | integrin subunit alpha 3 | |
| 3691 | ITGB4 | integrin subunit beta 4 | |
| 3909 | LAMA3 | laminin subunit alpha 3 | |
| 3914 | LAMB3 | laminin subunit beta 3 | |
| 3918 | LAMC2 | laminin subunit gamma 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16144 | Integrin beta-4 | |
| P23229 | Integrin alpha-6 | |
| P26006 | Integrin alpha-3 | |
| Q13751 | Laminin subunit beta-3 | |
| Q13753 | Laminin subunit gamma-2 | |
| Q16787 | Laminin subunit alpha-3 | |
| Q9UMD9 | Collagen alpha-1(XVII) chain |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07563 | Collagen alpha-1(XVII) chain | |
| Q61789 | Laminin subunit alpha-3 |
