LEKTI [SEP] found in taxon
exogenous serine proteases trypsin, plasmin, subtilisin A, cathepsin G and human neutrophil elastase.
LEKTI may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia.
Gene.
"SPINK5" is a member of a gene family cluster located on chromosome 5q32, which encode inhibitors of serine proteases. This includes other epidermal proteins SPINK6 and LEKTI-2 ("SPINK9"). The "SPINK5" gene is 61 kb in length and contains 33 exons. Alternative processing of "SPINK5
Killer cell deficiency-type SCID.
Cause and genetics.
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). These mutations result in a dysfunctional protein that has a reduced capacity to inhibit serine proteases expressed in the skin. Potential endogenous targets of LEKTI include KLK5, KLK7 and KLK14. These enzymes are involved in various aspects of epidermal remodelling, including desquamation, PAR-2 activation and degradation