Two novel mutations of the NCSTN gene in Chinese familial acne inverse
Two novel mutations of the NCSTN gene in Chinese familial acne inverse
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DOI：
10.1111/j.1468-3083.2012.04627.x
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发表时间：
2013-12
影响因子：
9.2
通讯作者：
Caie Zhang;L. Wang;Luzhu Chen;W. Ren;A. Mei;Xinguang Chen;You-bin Deng
中科院分区：
文献类型：
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作者：
Caie Zhang;L. Wang;Luzhu Chen;W. Ren;A. Mei;Xinguang Chen;You-bin Deng
暗疮（AI; MIM 142690），或化脓性汗腺炎（HS），是一种常染色体显性遗传性皮肤病，由γ分泌酶突变引起。γ -分泌酶复合体是一种跨膜蛋白酶，催化一系列膜蛋白的裂解，由四个基因编码的四个亚基组成，包括PSEN1、PSENEN、NCSTN和APH1。然而，与AI相关的突变差异很大，重要的是要定义特定AI患者的特定突变。
Background Acne inversa (AI; MIM 142690), or hidradenitis suppurativa (HS), is a type of autosomal‐dominant genodermatosis caused by mutations in γ‐secretase. The complex of γ‐secretase is a transmembrane protease that catalyses the cleavage of a set of membrane proteins and is comprised of four subunits encoded by four genes, including PSEN1, PSENEN, NCSTN and APH1. However, mutations associated with AI vary significantly, and it is important to define the specific mutation with a particular AI patient.