LAMA3 (Laminin subunit alpha-3) variants and mutations

LAMA3 (also known as Laminin subunit alpha-3) is a human protein-coding gene encoding a laminin subunit alpha-3 protein. 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. This analysis covers 4,223 LAMA3 variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa, Herlitz type, and junctional epidermolysis bullosa Herlitz type. Example LAMA3 variants include A2T, A2P, and A2S.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable LAMA3 variants

Examples include A2T, A2P, A2S, A2G, A2E, A2V, A2A, A3S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.