Mutations in spink5 responsible for nethertons syndrome and atopic diseases

摘要

The invention relates to the identification of the SPINK5 gene as the gene which is mutated in the autosomal recessive genetic skin condition Nethertons Syndrome and as a susceptibility gene for atopic disease in general. Genetic screens, therapeutic products and Nucleic acids and proteins corresponding to mutant versions of the SPINK5 cDNA and expression product are all described.