MBTPS2

(redirected from FLJ32174)

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.