FERMT1 (Fermitin family homolog 1) variants and mutations

FERMT1 (also known as Fermitin family homolog 1) is a human protein-coding gene encoding a fermitin family homolog 1 protein. It activates integrins and connects them to the actin cytoskeleton in basal keratinocytes, supporting adhesion of epidermis to basement membrane. Biallelic loss-of-function variants cause Kindler epidermolysis bullosa, with skin fragility, photosensitivity, and progressive poikiloderma. This analysis covers 968 FERMT1 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes Kindler syndrome, Abnormality of the skeletal system, and benign colon neoplasm. Example FERMT1 variants include S3P, S4F, and S4Y.

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, MaveDB, LitVar.

Notable FERMT1 variants

Examples include S3P, S4F, S4Y, T8A, F9S, A10V, S11C, W12*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.