SPINK5

(redirected from lymphoepithelial Kazal-type-related inhibitor)

SPINK5

A gene on chromosome 5q32 that encodes a multidomain serine protease inhibitor with 15 potential inhibitory domains, which may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia.

Molecular pathology
SPINK5 mutations cause Netherton syndrome.
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Netherton syndrome is caused by homozygous or compound heterozygous mutations in the SPINK5 gene, which encodes the serine protease inhibitor LEKTI (lymphoepithelial Kazal-type-related inhibitor), on chromosome 5q32 (2).
Immunohistochemistry using specific antibodies showed complete absence of lymphoepithelial Kazal-type-related inhibitor (LEKTI) in the biopsy specimen.
FLG, its major processing proteases and key protease inhibitor lymphoepithelial Kazal-type-related inhibitor (LEKTI) were measured by both real-time quantitative polymerase chain reaction and Western blotting.
FLG has several site-specific functions governed by the program of epidermal terminal differentiation in which a number of proteases are involved, such as corneum trypsin- and chymotrypsin-like enzymes (stratum corneum tryptic enzyme/kallikrein 5 [KLK5] and stratum corneum chymotryptic enzyme/KLK7),[sup][9],[10],[11] channel-activating serine protease1 (CAP1),[sup][12] matriptase (coded by ST14),[sup][12] and cysteine protease caspase-14[sup][13] and their key protease inhibitor lymphoepithelial Kazal-type-related inhibitor (LEKTI) (encoded by serine protease inhibitor Kazal-type 5 gene/ SPINK5 ).[sup][12],[13],[14] All of the proteases can enhance FLG degradation processing.