Lympho-epithelial Kazal-type-related inhibitor (LEKTI) also known as serine protease inhibitor Kazal-type 5 (SPINK5) is a protein that in humans is encoded by the SPINK5 gene. [5][6] LEKTI is a large multidomain serine protease inhibitor expressed in stratified epithelial tissue.

2024年12月25日 · SPINK5 (Serine Peptidase Inhibitor Kazal Type 5) is a Protein Coding gene. Diseases associated with SPINK5 include Netherton Syndrome and Ichthyosis Linearis Circumflexa. Among its related pathways are Developmental Cell Lineages and Keratinization.

At least 70 SPINK5 gene mutations have been identified in people with Netherton syndrome, a disorder involving skin and hair abnormalities and a high risk of allergies, asthma, and an inflammatory skin condition called eczema.

2024年2月5日 · Here we describe a novel and viable, Spink5 conditional knock-out (cKO) mouse model, allowing to study NS progression. By combining transcriptomics and proteomics, we determine a disease...

Serine peptidase inhibitor kazal type 5 (SPINK5) emerged as a potential key gene mediating the formation of EETs in HNSCC. EETs not only exhibit a positive correlation with diverse anti-cancer pathways but also demonstrate positive associations with processes such as proliferation, migration, and other critical pathways.

Missense mutations in the serine peptidase inhibitor Kazal type 5 (SPINK5) skin barrier gene have previously been associated with allergic conditions. Objective: To determine whether genetic variants in and around SPINK5 are associated with IgE-mediated food allergy.

2022年2月10日 · SPINK5 Can Serve as a Tumor Prognostic Marker and Inhibits Tumor Progression Through Multiple Mechanisms. The SPINK5 gene is located in the 5q32 region and consists of 15 functional regions, encoding a 15-domain classical and nonclassical Kazal inhibitor called lymphoepithelial Kazal-related inhibitor (LEKTI) .

2004年12月26日 · Mutations in SPINK5, encoding the serine protease inhibitor LEKTI, cause Netherton syndrome, a severe autosomal recessive genodermatosis. Spink5−/− mice faithfully replicate key features of...

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.

2006年2月1日 · Here, we report the characterization and expression analysis of two novel SPINK5 messenger RNAs (mRNAs) that are generated by alternative processing of the SPINK5 pre-mRNA.