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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Epidermisde deskuamasyon sureci ile iliskili epdermal homeostazin saglanmasinda onemli bir rol oynayan serin proteinaz inhibitoru (LEKTI) proteini kodlayan 5q32 kromozomunda bulunan SPINK5 gen mutasyonu bulunmustur.
Chavanas S, Bodemer C, Rochat A, et al: Mutations in SPINK5, encoding a serine protase inhibitor, cause Netherton syndrome.