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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References in periodicals archive ?
Defects of the LEKTI-encoding gene ( SPINK5 ) result in the lack of LEKTI and lead to Netherton syndrome which mimics AD.
Yuksek affiniteli IgE reseptorunu (FceRI; 11q13), mast hucre kimaz (14q11), IL4RA (interlokin 4 reseptor alfa zinciri, SPINK5 (serine proteaz inhibitor, Kazal tip 5), Toll benzeri reseptor 2 polimorfizmleri AD ile iliskili bulunmus mutasyonlardir.
Ayrica atopik dermatitte SPINK5 gen ekspresyonu ile olusan proteinlerin arttigi gosterilmistir (11).