Protein Name membrane bound transcription factor peptidase, site 2
Organism Homo sapiens
Gene ID 51360
Gene Symbol

MBTPS2

UniProt O43462 (MBTP2_HUMAN)
Relationships Total Number of functionally related compound(s) : 34
Total Number of Articles : 34
Description

membrane bound transcription factor peptidase, site 2

Gene 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]

synonyms
  • membrane-bound transcription factor site-2 protease
  • SREBPs intramembrane protease
  • endopeptidase S2P
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Properties