MBTPS2
membrane-bound transcription factor peptidase, site 2
Synonyms:
BRESEK, IFAP, KFSDX, S2P
Species:
Human MBTPS2 (51360), Mouse Mbtps2 (270669), Rat Mbtps2 (302705), naked mole-rat Mbtps2 (101726620), chicken MBTPS2 (427996), Zebrafish mbtps2 (334658), sheep MBTPS2 (101106915), domestic cat MBTPS2 (101084262), cow MBTPS2 (533134), domestic guinea pig Mbtps2 (100713910)
UniProtKB ID:
Gene ID:
- Human(51360) Summary: 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]
- Mouse(270669) membrane-bound transcription factor peptidase, site 2
- Rat(302705) membrane-bound transcription factor peptidase, site 2
- naked mole-rat(101726620) membrane-bound transcription factor peptidase, site 2
- chicken(427996) membrane-bound transcription factor peptidase, site 2
- Zebrafish(334658) membrane-bound transcription factor protease, site 2
- sheep(101106915) membrane-bound transcription factor peptidase, site 2
- domestic cat(101084262) membrane-bound transcription factor peptidase, site 2
- cow(533134) membrane-bound transcription factor peptidase, site 2
- domestic guinea pig(100713910) membrane-bound transcription factor peptidase, site 2
- dog(491771) membrane-bound transcription factor peptidase, site 2
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