SPINK5


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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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For a definite diagnosis, a whole exome sequencing was performed and detected a known, disease causing homozygous mutation in SPINK5 gene [IVS2+5G>T (c.81+5G>T)].
The diagnosis can be confirmed, if necessary, by identification of a germline SPINK5 mutation by DNA sequencing [3].
Thus, ZNF750 knockdown downregulates the expression of epidermal barrier-related proteins including FLG, loricrin, and SPINK5 [118].
Defects of the LEKTI-encoding gene ( SPINK5 ) result in the lack of LEKTI and lead to Netherton syndrome which mimics AD.[sup][37] Only a proportion of AD is susceptible to Spink5 polymorphisms,[sup][38],[39],[40],[41] which suggest that other factors may influence LEKTI expression in AD.
Asthma is believed to have a strong genetic background, and hundreds of genes have been identified to be related with asthma, including GSTM1, IL10, CTLA-4, SPINK5, LTC4S, IL4R, and ADAM33 [9].
Previous research has shown the role of gene (http://www.medicalnewstoday.com/articles/261029.php) ORMDL3 , (http://acc6.its.brooklyn.cuny.edu/~scintech/asthma/Genetics2.htm) ADAM33, (http://www.who.int/genomics/about/Asthma.pdf) PHF11, DPP10, GRPA and SPINK5 in asthma.
In Netherton syndrome, mutations occur in SPINK5, a serine protease inhibitor that encodes a critical serine protease inhibitor, lymphoepithelial-Kazal-type 5 inhibitor (LEKTI).