ITGA6 (Integrin alpha-6) variants and mutations

ITGA6 (also known as Integrin alpha-6) is a human protein-coding gene encoding an integrin alpha-6 protein. It pairs with beta integrin subunits to mediate adhesion to laminins in epithelial basement membranes and other tissues. Biallelic pathogenic variants can cause junctional epidermolysis bullosa with pyloric atresia or related epithelial-adhesion disorders. This analysis covers 1,517 ITGA6 variants and mutations. Of these, 38% have computational variant effect predictions. Disease context includes junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa - pyloric atresia, and epidermolysis bullosa, junctional 6, with pyloric atresia. Example ITGA6 variants include A2T, A2V, 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, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ITGA6 variants

Examples include A2T, A2V, A2S, A2G, A2A, A3S, A3T, A3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.