Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome

Abstract excerpt

BACKGROUND: PLS is a rare autosomal recessive disorder characterized by early onset periodontopathia and palmar plantar keratosis. PLS is caused by mutations in the cathepsin C (CTSC) gene. Dipeptidyl-peptidase I encoded by the CTSC gene removes dipeptides from the amino-terminus of protein substrates and mainly plays an immune and inflammatory role. Several mutations have been reported in this gene in patients...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Oral and gingival health research
• Share to Oral microbiology and periodontitis research
• Share to Spondyloarthritis Studies and Treatments