Gene: SPINK5
Alternate names for this Gene: LEKTI|LETKI|NETS|NS|VAKTI
Gene Summary: 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.
Gene is located in Chromosome: 5
Location in Chromosome : 5q32
Description of this Gene: serine peptidase inhibitor Kazal type 5
Type of Gene: protein-coding
rs2052536 in
SPINK5 gene and
Blood Protein Measurement
PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.
rs1131691490 in
SPINK5 gene and
Ichthyosis linearis circumflexa
PMID 11841556 2002 Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.
PMID 11511292 2001 The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
PMID 26865388 2016 Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.
PMID 22089833 2012 We identified a new and frequent synonymous mutation c.891C>T (p.Cys297Cys) in exon 11 of the 12 NS patients.
PMID 25665175 2015 The c.891C>T synonymous transition in SPINK5 induces exon 11 (E11) skipping and causes Netherton syndrome (NS).
PMID 22377713 2012 We report the functional characterization of a previously unrecognized synonymous variant, c.891C>T (p.Cys297Cys), identified in the SPINK5 exon 11 of an NS patient.