Antibody data
- Antibody Data
- Antigen structure
- References [5]
- Comments [0]
- Validations
- Western blot [1]
- Immunohistochemistry [1]
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- Product number
- ABIN953342 - Provider product page
- Provider
- antibodies-online
- Product name
- anti-Membrane-Bound Transcription Factor Peptidase, Site 2 (MBTPS2) (AA 14-44), (N-Term) antibody
- Antibody type
- Polyclonal
- Description
- Protein A column, followed by peptide affinity purification
- Reactivity
- Human
- Host
- Rabbit
- Epitope
- AA 14-44, N-Term
- Vial size
- 0.4 mL
- Storage
- Store undiluted at 2-8°C for one month or (in aliquots) at -20°C for longer.
- Handling
- Avoid repeated freezing and thawing.
Submitted references Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
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.
IRE1-mediated unconventional mRNA splicing and S2P-mediated ATF6 cleavage merge to regulate XBP1 in signaling the unfolded protein response.
Ming A, Happle R, Grzeschik KH, Fischer G
Pediatric dermatology 2009 Jul-Aug;26(4):427-31
Pediatric dermatology 2009 Jul-Aug;26(4):427-31
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
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
American journal of human genetics 2009 Apr;84(4):459-67
American journal of human genetics 2009 Apr;84(4):459-67
Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM
Journal of lipid research 2008 Dec;49(12):2582-9
Journal of lipid research 2008 Dec;49(12):2582-9
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.
Shen J, Prywes R
The Journal of biological chemistry 2004 Oct 8;279(41):43046-51
The Journal of biological chemistry 2004 Oct 8;279(41):43046-51
IRE1-mediated unconventional mRNA splicing and S2P-mediated ATF6 cleavage merge to regulate XBP1 in signaling the unfolded protein response.
Lee K, Tirasophon W, Shen X, Michalak M, Prywes R, Okada T, Yoshida H, Mori K, Kaufman RJ
Genes & development 2002 Feb 15;16(4):452-66
Genes & development 2002 Feb 15;16(4):452-66
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Supportive validation
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- antibodies-online (provider)
- Main image
- Experimental details
- WB
Supportive validation
- Submitted by
- antibodies-online (provider)
- Main image
- Experimental details
- IHC