Article
Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis.
Clinical genetics - 1 Mar 2023
Wang Xuan, Liu Jun, Chen Junyi, Xu Xueyan, Zhong Yadan, Xu Yingping, Lu Ping, Zhou Jiajian, Lin Zhimiao, Yang Bin, Yang Chao
Abstract excerpt
Cystatin M/E (encoded by the CST6 gene) is a cysteine protease inhibitor, that exerts regulatory and protective effects against uncontrolled proteolysis mainly by directly regulating cathepsin V, cathepsin L, and legumain activities. Previous studies have suggested that CST6 may exert a regulatory role in epidermal differentiation and hair follicle formation by inhibiting the activity of respective cognate target...
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