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].
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; S2P; S2P endopeptidase; site-2 protease; SREBPs intramembrane protease; Sterol regulatory element-binding proteins intramembrane protease