Anti-MBTPS2

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. Protein function: Involved in regulated intramembrane proteolysis (RIP) that is the cleavage of membrane-spanning regulatory proteins by proteases within the plane of the membrane. It cleaves sterol-regulatory element- binding proteins (SREBPs) within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Mature N-terminal fragments shuttle to the nucleus and activate gene transcription (PubMed:9659902, PubMed:27380894). Involved in RIP-mediated regulation of bone formation (PubMed:27380894). [The UniProt Consortium]