Goat Cathepsin C ELISA Kit

Papillon-Lefevre syndrome is an autosomal recessive genodermatosis typically manifesting with the constellation of palmoplantar keratoderma and progressive early-onset periodontitis. The cutaneous phenotype can be strikingly psoriasiform, possibly posing a diagnostic challenge. This rare disorder is caused by loss-of-function mutations in the CTSC gene, which encodes cathepsin C. We report six patients with Papillon-Lefevre syndrome from five consanguineous Turkish families, in whom genetic analysis of the CTSC gene revealed four recurrent mutations (c.415G>A; c.1015C>T; c.1019A>G; and c.103-105delCTG) and a novel missense mutation (c.117G>T) in the homozygous state.

The aim of this study was to provide the evidence that the CTSC product, DPPI is the activator of KLK4 during amelogenesis by examining the expression pattern of KLK4 and CTSC in developing teeth. The 1st mandibular molars from E16.5 embryos and postnatal mice, and incisor from P5 mandibles were selected for the immunohistochemistry with antibodies against KLK4 and DPPI. The expression of KLK4 and CTSC were initiated from postnatal day 1 (P1) expressed in molar ameloblasts. From P5 on, KLK4 was distributed not only in ameloblasts, but also in the degenerating satellite reticulum of molar enamel organ. However, DPPI distribution is always restricted to the molar ameloblasts. In the P5 incisor, the distribution of KLK4 and DPPI were spatiotemporally consistent in the ameloblasts. The coincidence of KLK4 and DPPI distribution in ameloblasts strongly suggested that DPPI activated KLK4. The distribution of KLK4 in satellite reticulum suggested that KLK4 most likely plays a proteolytic role in degeneration of enamel organ.