英语词汇“mbtps2”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	mbtps2
释义	MBTPS2 MBTPS2 A gene on chromosome Xp22.12-p22.11 that encodes an intramembrane zinc metalloprotease, which is essential in development and involved in signal-protein activation for sterol control of transcription and the ER stress response. Molecular pathology MBTPS2 mutations cause ichthyosis follicularis with atrichia and photophobia (IFAP syndrome), which is characterised by altered cholesterol homeostasis and ER stress response, as well as the BRESEK and BRESHECK syndromes.
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MBTPS2