LAMA3
Chr 18ARlaminin subunit alpha 3
Also known as: BM600, E170, JEB2A, JEB2B, JEB2C, LAMNA, LOCS
The LAMA3 protein is a laminin alpha subunit that forms part of heterotrimeric laminin complexes essential for basement membrane formation and function, mediating cell attachment, migration, and tissue organization during development. Mutations cause autosomal recessive junctional epidermolysis bullosa with a spectrum of severity from intermediate (type 2A) to severe (type 2B) forms, as well as laryngoonychocutaneous syndrome (type 2C) which involves skin, laryngeal, and nail abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.69), and these conditions typically present in the neonatal period with skin fragility and blistering.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
400 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 0 | 5 | 0 | 6 |
Likely Pathogenic | 22 | 1 | 4 | 1 | 28 |
VUS | 0 | 249 | 8 | 0 | 257 |
Likely Benign | 0 | 12 | 32 | 21 | 65 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 23 | 262 | 50 | 22 | 357 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LAMA3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools