Site 2 protease Rabbit pAb
- 产品详情
- 实验流程
Application
| WB, IHC-P, IHC-F, IF |
|---|---|
| Primary Accession | O43462 |
| Other Accession | O43462 |
| Host | Rabbit |
| Clonality | Polyclonal |
| Calculated MW | 57444 Da |
| Physical State | Liquid |
| Immunogen | KLH conjugated synthetic peptide derived from human Site 2 protease |
| Epitope Specificity | 1-100/519 |
| Isotype | IgG |
| Purity | affinity purified by Protein A |
| Buffer | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| SIMILARITY | Belongs to the peptidase M50A family. |
| DISEASE | Defects in MBTPS2 are the cause of ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]. A syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy. Defects in MBTPS2 are a cause of keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]. A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration. |
| Important Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| Background Descriptions | 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 ID | 51360 |
|---|---|
| Other Names | BRESEK; IFAP; KFSD; KFSDX; OI19; OLMSX; S2P; 9630032G22Rik; LRRGT00063; MBTP2_HUMAN; MBTPS2; Endopeptidase S2P; Sterol regulatory element-binding proteins intramembrane protease (SREBPs intramembrane protease); 3.4.24.85; MBTP2_MOUSE; membrane bound transcription factor peptidase, site 2; membrane-bound transcription factor protease, site 2; keratosis follicularis spinulosa decalvans; site-2 protease; sterol regulatory element-binding proteins intramembrane protease |
| Dilution | WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500 |
| Storage | Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. |
For Research Use Only. Not For Use In Diagnostic Procedures.
| Name | MBTPS2 {ECO:0000303|PubMed:19361614, ECO:0000312|HGNC:HGNC:15455} |
|---|---|
| Function | Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:10805775, PubMed:11163209). Catalyzes the second step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2: cleaves SREBPs within the first transmembrane segment, thereby releasing the N- terminal segment with a portion of the transmembrane segment attached (PubMed:10805775, PubMed:27380894, PubMed:9659902). Mature N-terminal SREBP fragments shuttle to the nucleus and activate gene transcription (PubMed:10805775, PubMed:27380894, PubMed:9659902). Also mediates the second step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) (PubMed:11163209). Involved in intramembrane proteolysis during bone formation (PubMed:27380894). In astrocytes and osteoblasts, upon DNA damage and ER stress, mediates the second step of the regulated intramembrane proteolytic activation of the transcription factor CREB3L1, leading to the inhibition of cell- cycle progression (PubMed:16417584). |
| Cellular Location | Membrane; Multi- pass membrane protein. Cytoplasm. Golgi apparatus membrane; Multi-pass membrane protein |
| Tissue Location | Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas. |
Research Areas
Application Protocols
Provided below are standard protocols that you may find useful for product applications.
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