Article
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G.
Journal of human genetics - 1 Jun 2023
Liu Yaqin, Li Hongmei, Meng Shasha, Xu Yunfei, Ni Sili, Sun Yanan, Zhou Weihui
Abstract excerpt
Generalized pustular psoriasis (GPP) is an autoinflammatory skin disease whose pathogenesis has not yet been fully elucidated. Alpha-1-antichymotrypsin(ACT) is a protein encoded by the SERPINA3 gene and an inhibitor of cathepsin G. One study of a European sample suggested that the loss of ACT function caused by SERPINA3 mutation is implicated in GPP. However, the role of SERPINA3 in the pathogenesis of GPP in...
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