DISEASES

Disease-gene associations mined from literature

Literature associating KLK7 and Netherton syndrome

KLK7 [ENSP00000375683]

Stratum corneum chymotryptic enzyme; May catalyze the degradation of intercellular cohesive structures in the cornified layer of the skin in the continuous shedding of cells from the skin surface. Specific for amino acid residues with aromatic side chains in the P1 position. Cleaves insulin A chain at '14-Tyr-|-Gln-15' and insulin B chain at '6- Leu-|-Cys-7', '16-Tyr-|-Leu-17', '25-Phe-|-Tyr-26' and '26-Tyr-|- Thr-27'. Could play a role in the activation of precursors to inflammatory cytokines; Kallikreins

Synonyms:  KLK7,  KLK7p,  hKLK7,  A0A024R4H6,  B4DHX9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM