(serine Peptidase Inhibitor, Kazal Type 5 (SPINK5))
This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The inhibitor may play a role in skin and hair morphogenesis and anti-inflammatory and/or antimicrobial protection of mucous epithelia. Mutations may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. Multiple transcript variants encoding different isoforms have been found for this gene.
Sugihara, Sugimoto, Tachibana, Kobashi, Nomura, Miyake, Hirai, Yamasaki, Morizane: "TNF-α and IL-17A induce the expression of lympho-epithelial Kazal-type inhibitor in epidermal keratinocytes." in: Journal of dermatological science, Vol. 96, Issue 1, pp. 26-32, (2019) (PubMed).
McGovern, Meinert, de Veer, Hollier, Parker, Upton: "Attenuated kallikrein-related peptidase activity disrupts desquamation and leads to stratum corneum thickening in human skin equivalent models." in: The British journal of dermatology, (2016) (PubMed).