Aliases for SPINK5 Gene
External Ids for SPINK5 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for SPINK5 Gene
SPINK5 (Serine Peptidase Inhibitor, Kazal Type 5) is a Protein Coding gene. Diseases associated with SPINK5 include ichthyosis linearis circumflexa and netherton syndrome. Among its related pathways are Cell adhesion_Plasmin signaling. GO annotations related to this gene include serine-type endopeptidase inhibitor activity.
UniProtKB/Swiss-Prot 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, its major target, in a pH-dependent manner. Inhibits KLK7, KLK14 CASP14, and trypsin.