Literature associating SPINK5 and ichthyosis follicularis-alopecia-photophobia syndrome
Lympho-epithelial Kazal-type-related inhibitor; 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; Serine peptidase inhibitors, Kazal type
Synonyms: SPINK5, SPINK5p, hSPINK5, E5RFU9, E5RG22 ...