This gene encodes a multidomain serine protease inhibitor that contains 15 potential inhibitory domains. The encoded preproprotein is proteolytically processed to generate multiple protein products, which may exhibit unique activities and specificities. These proteins may play a role in skin and hair morphogenesis, as well as anti-inflammatory and antimicrobial protection of mucous epithelia. Mutations in this gene may result in Netherton syndrome, a disorder characterized by ichthyosis, defective cornification, and atopy. This gene is present in a gene cluster on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Forensic Context
A study in humans established a rapid RT-RPA-LFD strip test for vaginal secretion identification using the SPINK5 mRNA marker, which produced positive signals in 100% of vaginal secretion samples, 96.67% of menstrual blood samples, and 13.33% of female urine samples, with no cross-reactivity in semen, skin swabs, sweat, or male urine, and it detected aged samples stored for 300 days at room temperature with high sensitivity down to 50 fg RNA [Liu et al. DOI:10.1016/j.fsigen.2022.102788]. Another human study characterized the SPINK5 biomarker as expressing both mRNA and circular RNA (circRNA) forms for vaginal secretions, noting that the inclusion of circRNAs in its detection did not impair specificity, though cross-reactivity with saliva was observed [Liu et al. DOI:10.1007/s00414-019-02027-y].