SPINK5 (Q9NQ38) variants and mutations

SPINK5 (also known as Q9NQ38) is a human protein-coding gene encoding a serine protease inhibitor Kazal-type 5 protein. Its processed inhibitory domains restrain epidermal serine proteases and protect the skin barrier from excessive proteolysis and inflammation. Biallelic loss-of-function variants cause Netherton syndrome with ichthyosis, hair-shaft defects, severe atopy, and infection risk. This analysis covers 1,687 SPINK5 variants and mutations. Of these, 66% have computational variant effect predictions. Disease context includes Netherton syndrome, ichthyosis linearis circumflexa, and erythematosquamous dermatosis. Example SPINK5 variants include M1?, M1K, and K2N.

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 SPINK5 variants

Examples include M1?, M1K, K2N, K2Q, K2R, I3T, A4T, A4V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.