MBTPS2
收藏rgd.mcw.edu2025-03-22 收录
下载链接：
https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1342985
下载链接
链接失效反馈官方服务：
资源简介：
This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
该基因编码一种膜内锌金属蛋白酶，该酶在发育过程中至关重要。此蛋白酶参与信号蛋白激活，该激活与甾醇调控转录及内质网应激反应相关。该基因的突变与鱼鳞病毛囊化无毛及光过敏（IFAP 综合征）相关；IFAP 综合征与胆固醇稳态降低及内质网应激反应的减少存在定量联系。[由 RefSeq 提供，2009 年 8 月]
提供机构：
Rat Genome Database
