Membrane bound transcription factor peptidase, site 2

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Membrane bound transcription factor peptidase, site 2 is a protein that in humans is encoded by the MBTPS2 gene.

Function

This gene encodes an 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].

Further reading

• Lee K, Tirasophon W, Shen X, Michalak M, Prywes R, Okada T, Yoshida H, Mori K, Kaufman RJ (February 2002). "IRE1-mediated unconventional mRNA splicing and S2P-mediated ATF6 cleavage merge to regulate XBP1 in signaling the unfolded protein response". Genes Dev. 16 (4): 452–66. doi:10.1101/gad.964702. PMC 155339. PMID 11850408.
• Shen J, Prywes R (October 2004). "Dependence of site-2 protease cleavage of ATF6 on prior site-1 protease digestion is determined by the size of the luminal domain of ATF6". J. Biol. Chem. 279 (41): 43046–51. doi:10.1074/jbc.M408466200. PMID 15299016.
• Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM (December 2008). "Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations". J. Lipid Res. 49 (12): 2582–9. doi:10.1194/jlr.M800232-JLR200. PMID 18660489.
• Oeffner F, Fischer G, Happle R, König A, Betz RC, Bornholdt D, Neidel U, Boente Mdel C, Redler S, Romero-Gomez J, Salhi A, Vera-Casaño A, Weirich C, Grzeschik KH (April 2009). "IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response". Am. J. Hum. Genet. 84 (4): 459–67. doi:10.1016/j.ajhg.2009.03.014. PMC 2667992. PMID 19361614.
• Ming A, Happle R, Grzeschik KH, Fischer G (2009). "Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred". Pediatr Dermatol. 26 (4): 427–31. doi:10.1111/j.1525-1470.2009.00946.x. PMID 19689518.
• Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT (October 2010). "Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2". Hum. Mutat. 31 (10): 1125–33. doi:10.1002/humu.21335. PMID 20672378.
• Ding YG, Wang JY, Qiao JJ, Mao XH, Cai SQ (October 2010). "A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family". Br. J. Dermatol. 163 (4): 886–9. doi:10.1111/j.1365-2133.2010.09890.x. PMID 20854407.
• Tang L, Liang J, Wang W, Yu L, Yao Z (April 2011). "A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family". J. Am. Acad. Dermatol. 64 (4): 716–22. doi:10.1016/j.jaad.2010.02.045. PMID 21315478.
• Oeffner F, Martinez F, Schaffer J, Salhi A, Monfort S, Oltra S, Neidel U, Bornholdt D, van Bon B, König A, Happle R, Grzeschik KH (May 2011). "Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome". Exp. Dermatol. 20 (5): 447–9. doi:10.1111/j.1600-0625.2010.01238.x. PMID 21426410.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.