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Abnova
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Immunogen sequence: ASTLQQLSFP VRAYKRLDGS TECCNNHSLT DVCFSYRNNF NKRLHTCLPA RKAVEATQVC RTNKDCKKSS SSSFCIIPSL ETHTRLIKVK HPPQIDMLYV GHPLHLH
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].
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Endopeptidase S2P; keratosis follicularis spinulosa decalvans; membrane-bound transcription factor peptidase, site 2; membrane-bound transcription factor protease, site 2; Membrane-bound transcription factor site-2 protease; site-2 protease; SREBPs intramembrane protease; Sterol regulatory element-binding proteins intramembrane protease
基因别名: BRESEK; IFAP; KFSD; KFSDX; MBTPS2; OLMSX; S2P
UniProt ID: (Human) O43462
Entrez Gene ID: (Human) 51360