Epidermolysis bullosa, junctional 4, intermediate: genes and variants
Epidermolysis bullosa, junctional 4, intermediate is linked to 2 analyzed proteins (COL17A1 and LAMA3). 1 DNA variants are known to cause it; 4 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Epidermolysis bullosa, junctional 4, intermediate
COL17A1: Collagen alpha-1(XVII) chain
It anchors basal keratinocytes to the basement membrane through hemidesmosomes and is essential for stable epidermal adhesion. Biallelic loss-of-function variants cause junctional epidermolysis bullosa, while autoantibodies against the protein cause bullous pemphigoid.
1 disease-causing and 4 uncertain variants in COL17A1 are linked to Epidermolysis bullosa, junctional 4, intermediate.
LAMA3: Laminin subunit alpha-3
It contributes to laminin-332 in epithelial basement membranes, where it supports stable attachment of basal keratinocytes to underlying matrix. Biallelic pathogenic variants can cause junctional epidermolysis bullosa, while some variants cause amelogenesis imperfecta or milder skin disease.
0 disease-causing and 0 uncertain variants in LAMA3 are linked to Epidermolysis bullosa, junctional 4, intermediate.
Known disease-causing variants in Epidermolysis bullosa, junctional 4, intermediate
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL17A1 G633D | 633 | Triple-helical region | Disease-causing |
Same protein, different disease
- Amelogenesis imperfecta is also caused by COL17A1 variants; they fall mostly in different places as the Epidermolysis bullosa, junctional 4, intermediate variants (4 disease-causing).
Diseases related to Epidermolysis bullosa, junctional 4, intermediate
- Junctional epidermolysis bullosa, also linked to COL17A1 and LAMA3
- Junctional epidermolysis bullosa, non-Herlitz type, also linked to COL17A1 and LAMA3
- Amelogenesis imperfecta, also linked to COL17A1
- Junctional epidermolysis bullosa gravis of Herlitz, also linked to LAMA3
- Epithelial recurrent erosion dystrophy, also linked to COL17A1
Frequently asked questions
Which genes are linked to Epidermolysis bullosa, junctional 4, intermediate?
In CATVariant, Epidermolysis bullosa, junctional 4, intermediate is linked to 2 analyzed proteins: COL17A1 (Collagen alpha-1(XVII) chain) and LAMA3 (Laminin subunit alpha-3).
How many genetic variants are linked to Epidermolysis bullosa, junctional 4, intermediate?
16 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Epidermolysis bullosa, junctional 4, intermediate look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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