Aliases for SPINK5 Gene
External Ids for SPINK5 Gene
Previous GeneCards Identifiers for SPINK5 Gene
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]
GeneCards Summary for SPINK5 Gene
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 Biology and Cell adhesion_Plasmin signaling. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and peptidase inhibitor activity. An important paralog of this gene is FSTL4.
UniProtKB/Swiss-Prot Summary for SPINK5 Gene
Serine protease inhibitor, probably important for the anti-inflammatory and/or antimicrobial protection of mucous epithelia. Contribute to the integrity and protective barrier function of the skin by regulating the activity of defense-activating and desquamation-involved proteases. Inhibits KLK5, it's major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin.