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MBTPS2

Official Full Name
membrane bound transcription factor peptidase, site 2
Organism
Homo sapiens
GeneID
51360
Background
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]
Synonyms
S2P; IFAP; KFSD; OI19; KFSDX; OLMSX; BRESEK;

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