LAMC2 (Laminin subunit gamma-2) variants and mutations

LAMC2 (also known as Laminin subunit gamma-2) is a human protein-coding gene encoding a laminin subunit gamma-2 protein. 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. This analysis covers 1,627 LAMC2 variants and mutations. Of these, 75% have computational variant effect predictions. Disease context includes Junctional epidermolysis bullosa, Herlitz type, junctional epidermolysis bullosa Herlitz type, and epidermolysis bullosa, junctional 3B, severe. Example LAMC2 variants include M1I, M1T, and M1V.

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 LAMC2 variants

Examples include M1I, M1T, M1V, P2H, P2L, P2T, P2S, P2P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.