半岛bd体育手机客户端 介绍
基因名：
MBTPS2 半岛bd体育手机客户端 别名： BRESEK； IFAP； KFSD； KFSDX； OI19； OLMSX； S2P； MBTPS2； membrane bound transcription factor peptidase, site 2； membrane bound transcription factor peptidase, site 2； membrane-bound transcription factor site-2 protease； SREBPs intramembrane protease； endopeptidase S2P； keratosis follicularis spinulosa decalvans； membrane-bound transcription factor protease, site 2； site-2 protease； sterol regulatory element-binding proteins intramembrane protease； S2P内肽酶； 背景信息：
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]
标签：His-tag |
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