|Other Names||Membrane-bound transcription factor site-2 protease, Endopeptidase S2P, Sterol regulatory element-binding proteins intramembrane protease, SREBPs intramembrane protease, MBTPS2, S2P|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Intramembrane proteolysis of 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. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop.|
|Cellular Location||Membrane; Multi-pass membrane protein Cytoplasm|
|Tissue Location||Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas|
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This gene encodes a intramembrane zinc metalloprotease,which is essential in development. This protease functions in thesignal protein activation involved in sterol control oftranscription and the ER stress response. Mutations in this genehave been associated with ichthyosis follicularis with atrichia andphotophobia (IFAP syndrome); IFAP syndrome has been quantitativelylinked to a reduction in cholesterol homeostasis and ER stressresponse.
Ming, A., et al. Pediatr Dermatol 26(4):427-431(2009)Oeffner, F., et al. Am. J. Hum. Genet. 84(4):459-467(2009)Lu, Y., et al. J. Lipid Res. 49(12):2582-2589(2008)Shen, J., et al. J. Biol. Chem. 279(41):43046-43051(2004)Lee, K., et al. Genes Dev. 16(4):452-466(2002)
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