Junctional epidermolysis bullosa gravis of Herlitz: genes and variants
Junctional epidermolysis bullosa gravis of Herlitz is linked to 3 analyzed proteins (LAMB3, LAMA3 and LAMC2). 4 DNA variants are known to cause it; 87 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 Junctional epidermolysis bullosa gravis of Herlitz
LAMB3: Laminin subunit beta-3
It contributes the beta3 chain of laminin-332, an essential ligand for hemidesmosomal adhesion at the epidermal basement membrane. Biallelic loss-of-function variants cause junctional epidermolysis bullosa, and selected variants can also cause amelogenesis imperfecta.
2 disease-causing and 17 uncertain variants in LAMB3 are linked to Junctional epidermolysis bullosa gravis of Herlitz.
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.
1 disease-causing and 61 uncertain variants in LAMA3 are linked to Junctional epidermolysis bullosa gravis of Herlitz.
LAMC2: Laminin subunit gamma-2
It contributes the gamma2 chain of laminin-332 and helps anchor epithelial cells to basement membrane through integrin and dystroglycan interactions. Biallelic pathogenic variants cause junctional epidermolysis bullosa with skin and mucosal fragility.
1 disease-causing and 9 uncertain variants in LAMC2 are linked to Junctional epidermolysis bullosa gravis of Herlitz.
Known disease-causing variants in Junctional epidermolysis bullosa gravis of Herlitz
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| LAMB3 E210K | 210 | Laminin N-terminal | Disease-causing (★★) |
| LAMB3 M1L | 1 | Disease-causing (★) | |
| LAMC2 M1I | 1 | Disease-causing | |
| LAMA3 S1741G | 1741 | Laminin EGF-like 14 | Disease-causing |
Same protein, different disease
- Junctional epidermolysis bullosa is also caused by LAMB3 variants; they fall mostly in different places as the Junctional epidermolysis bullosa gravis of Herlitz variants (4 disease-causing).
Diseases related to Junctional epidermolysis bullosa gravis of Herlitz
- Junctional epidermolysis bullosa, also linked to LAMA3, LAMB3 and LAMC2
- Junctional epidermolysis bullosa, non-Herlitz type, also linked to LAMA3, LAMB3 and LAMC2
- Amelogenesis imperfecta, also linked to LAMB3
- Epidermolysis bullosa, junctional 4, intermediate, also linked to LAMA3
Frequently asked questions
Which genes are linked to Junctional epidermolysis bullosa gravis of Herlitz?
In CATVariant, Junctional epidermolysis bullosa gravis of Herlitz is linked to 3 analyzed proteins: LAMB3 (Laminin subunit beta-3), LAMA3 (Laminin subunit alpha-3) and LAMC2 (Laminin subunit gamma-2).
How many genetic variants are linked to Junctional epidermolysis bullosa gravis of Herlitz?
102 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 87 are of uncertain significance or have conflicting reports.
Which uncertain variants in Junctional epidermolysis bullosa gravis of Herlitz 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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