protease | Protease | HtrA serine peptidase 2 | Serine/arginine-rich splicing factor 1 | Serine | serine | ATP-dependent Clp protease proteolytic subunit |
Netherton syndrome is an autosomal recessive disorder associated with mutations in the SPINK5 gene, which encodes the serine protease inhibitor lympho-epithelial Kazal-type-related inhibitor (LEKTI).
C4BP accelerates decay of C3-convertase and is a cofactor for serine protease factor I which cleaves C4b and C3b.
KLK7, a serine protease that in humans is encoded by the KLK7 gene
The Netherton syndrome Mendelian Inheritance in Man is inherited as an autosomal recessive disorder due to mutations of both copies of the SPINK5 gene (localized to band 5q31-32), which encodes the serine protease inhibitor LEKTI (lymphoepithelial Kazal-type-related inhibitor).
A further safeguard against inappropriate trypsin activation is the presence of inhibitors such as bovine pancreatic trypsin inhibitor (BPTI) and serine protease inhibitor Kazal-type 1 (SPINK1), which binds to any trypsin formed.