Adam17^woe

A spontaneous C to T transition at coding nucleotide 794 (c.794C>T) in exon 7 results in the amino acid substitution of threonine with methionine at position 265 (p.T265M). This mutation also disrupts splicing. The major transcript lacks exon 7, which corresponds to residues 252-281 of the metalloprotease domain. The absence of mature protein expression was confirmed by western blot analysis on mouse embryonic fibroblast extracts. The truncated product is functionally inactive but exhibits constitutive and stimulated substrate shedding. (J:160781)