Recombinant Human Membrane-bound transcription factor site-2 protease (MBTPS2), partial

中文名稱：

人MBTPS2重組蛋白
貨號(hào)：

CSB-YP013557HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Yeast
其他：

中文名稱：

人MBTPS2重組蛋白
貨號(hào)：

CSB-EP013557HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
其他：

中文名稱：

人MBTPS2重組蛋白
貨號(hào)：

CSB-EP013557HU-B
說明書：

MSDS Datasheet
規(guī)格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人MBTPS2重組蛋白
貨號(hào)：

CSB-BP013557HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

人MBTPS2重組蛋白
貨號(hào)：

CSB-MP013557HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

MBTPS2
Uniprot No.：

O43462
別名：

BRESEK; Endopeptidase S2P; IFAP; KFSDX; MBTP2_HUMAN; MBTPS2; Membrane bound transcription factor site 2 protease; membrane-bound transcription factor peptidase, site 2; membrane-bound transcription factor protease, site 2; Membrane-bound transcription factor site-2 protease; S2P; S2P endopeptidase; Site 2 protease; SREBPs intramembrane protease; Sterol regulatory element-binding proteins intramembrane protease
種屬：

Homo sapiens (Human)
蛋白長(zhǎng)度：

Partial
蛋白標(biāo)簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產(chǎn)品提供形式：

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復(fù)溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲(chǔ)存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項(xiàng)：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2. 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. Mature N-terminal SREBP fragments shuttle to the nucleus and activate gene transcription. Also mediates the second step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B). Involved in intramembrane proteolysis during bone formation.
基因功能參考文獻(xiàn)：
1. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. PMID: 27380894
2. This study identified a direct regulatory effect of MBTPS2 on TRPV3 which can partially contribute to the overlapping clinical features of IFAP and Olmsted syndromes under a common signaling pathway. PMID: 28717930
3. S2P is essential owing to its activation of the sterol regulatory element binding proteins (SREBPs); in the absence of exogenous lipid, cells lacking S2P cannot survive. (Review) PMID: 23571157
4. In male patients, a genotype-phenotype correlation has begun to emerge, linking the site of the mutation in MBTPS2 with the clinical outcome described as IFAP syndrome. PMID: 23316014
5. We demonstrate a novel association between an MBTPS2 mutation and an X-linked form of Olmsted syndrome. PMID: 22931912
6. We report a fourth pedigree affected with Keratosis Follicularis Spinulosa Decalvans resulting from a recurrent missense mutation in the MBTPS2 gene. PMID: 22816986
7. Both intronic MBTPS2 c.671-9T>G and c.225-6T>A point mutations are ichthyosis follicularis, alopecia and photophobia syndrome causing mutations. PMID: 21426410
8. We confirm that MBTPS2 mutations cause ichthyosis follicularis atricia and photophobia syndrome in patients of Chinese origin PMID: 21315478
9. Chinese family with a mild IFAP phenotype and a novel mutation in the MBTPS2 gene PMID: 20854407
10. Missense mutations in the MBTPS2 gene have been identified as the cause of Follicularis Spinulosa Decalvans (KFSD). PMID: 20672378
11. S2P-mediated ATF6 cleavage is involved in regulating XBP1 in signaling the unfolded protein response. PMID: 11850408
12. S2P cleavage is blocked by the bulky ATF6 luminal domain, which is reduced in size by S1P PMID: 15299016
13. assign the IFAP syndrome locus to the 5.4 Mb region between DXS989 and DXS8019 on Xp22.11-p22.13 and provide evidence that missense mutations of membrane-bound transcription factor protease, site 2 (MBTPS2) are associated with this phenotype PMID: 19361614
14. study presents the largest kindred of ichthyosis follicularis, alopecia and photophobia (IFAP) reported to date clearly demonstrating X-linked inheritance; missense mutations of the gene, MBTPS2 are associated with the IFAP phenotype in this kindred PMID: 19689518
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相關(guān)疾病：

IFAP syndrome with or without BRESHECK syndrome (IFAPS); Olmsted syndrome, X-linked (OLMSX); Keratosis follicularis spinulosa decalvans X-linked (KFSDX)
亞細(xì)胞定位：

Membrane; Multi-pass membrane protein. Cytoplasm.
蛋白家族：

Peptidase M50A family
組織特異性：

Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas.
數(shù)據(jù)庫鏈接：

HGNC: 15455

OMIM: 300294

KEGG: hsa:51360

STRING: 9606.ENSP00000368798

UniGene: Hs.443490