MBTPS2, membrane bound transcription factor peptidase, site 2

MBTPS2, membrane bound transcription factor peptidase, site 2

• 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]

• Gene Synonyms (membrane-bound transcription factor site-2 protease, SREBPs intramembrane protease, endopeptidase S2P, keratosis follicularis spinulosa decalvans, membrane-bound transcription factor protease, site 2, site-2 protease, sterol regulatory element-binding proteins intramembrane protease, BRESEK, IFAP, KFSD, KFSDX, OI19, OLMSX, S2P,)
• NCBI Gene ID: 51360
• Species: Homo sapiens (Human)
• UNIPROT ID#>>O43462
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

membrane bound transcription factor peptidase, site 2 interacts with:

• biorientation of chromosomes in cell division 1 like 1
  centromere protein M
  cytidine monophosphate N-acetylneuraminic acid synthetase
  cytochrome b5 type B
  family with sequence similarity 8 member A1
  interleukin 17 receptor C
  mediator complex subunit 9
  membrane bound transcription factor peptidase, site 2
  mitochondrial ribosomal protein L11
  nucleolar pre-rRNA processing protein NIP7
  pleckstrin homology domain containing A4
  store-operated calcium entry associated regulatory factor
  synoviolin 1
  TELO2 interacting protein 2
  translocase of outer mitochondrial membrane 22

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.