Recombinant Human Myotubularin-related protein 13 (SBF2), partial

中文名稱：

人SBF2重組蛋白
貨號：

CSB-YP773047HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人SBF2重組蛋白
貨號：

CSB-EP773047HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人SBF2重組蛋白
貨號：

CSB-EP773047HU-B
說明書：

MSDS Datasheet
規格：
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SBF2重組蛋白
貨號：

CSB-BP773047HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人SBF2重組蛋白
貨號：

CSB-MP773047HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

SBF2
Uniprot No.：

Q86WG5
別名：

SBF2; CMT4B2; KIAA1766; MTMR13; Myotubularin-related protein 13; Inactive phosphatidylinositol 3-phosphatase 13; SET-binding factor 2
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
蛋白標簽：

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.
儲存條件：

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

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：

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.

產品評價

靶點詳情

功能：

Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion. Acts as an adapter for the phosphatase MTMR2. Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate.
基因功能參考文獻：
1. Rare variants in SBF2 predict an increased risk of taxane-induced peripheral neuropathy in African American breast cancer patients receiving paclitaxel. PMID: 27732968
2. SBF2, encoding another myotubularin member MTMR13, may promote the progression of pancreatic cancer via the TGF-beta signaling by raising the activated R-SMADs and decreasing inhibitory SMAD-7. PMID: 25882882
3. Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion. PMID: 25648148
4. SBF2 frameshift mutation is associated with charcot-marie-tooth disease type 4B2. PMID: 25462154
5. Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing. PMID: 23334996
6. Germline genetic variation in the SBF2 locus was associated with overall survival in patients with pancreatic adenocarcinoma of European and Asian ancestry. PMID: 23180869
7. REVIEW : MTMR13 and homologous proteins are mutated in several neuromuscular diseases PMID: 18429927
8. A phylogenetic study revealing co-evolution of myotubularins with PI 3-kinase class III complex PMID: 18774718
9. Mutations in MTMR13 were associated with a syndrome of demyelinating Charcot-Marie-Tooth disease and early onset glaucoma; MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork PMID: 12687498
10. A loss-of-function mutation in SBF2/MTMR13 causes CMT4B with early-onset glaucoma, possibly by degradation of SBF2 mRNA thru the nonsense mutation decay pathway. PMID: 15304601
11. The first evidence of a mutation in the splicing site of the SBF2 gene, confirming that mutations in the SBF2 gene are causative of the CMT4B2 subtype of Charcot-Marie-Tooth disease. PMID: 15477569
12. Loss of MTMR13 (SBF2) function in Charcot-Marie-Tooth disease type 4B patients may lead to alterations in MTMR2 function and subsequent alterations in 3-phosphoinositide signaling. PMID: 15998640
13. review of the role of MTMR2 and MTMR13 and their involvement in the biology of Schwann cell and CMT4B neuropathies PMID: 17880751
14. FLNB and SBF2 are associated with human stature. PMID: 19039035
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相關疾?。?/div>
Charcot-Marie-Tooth disease 4B2 (CMT4B2)
亞細胞定位：

Cytoplasm. Cytoplasm, perinuclear region. Membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein. Cell projection, axon.
蛋白家族：

Protein-tyrosine phosphatase family, Non-receptor class myotubularin subfamily
組織特異性：

Widely expressed. Expressed in spinal cord.
數據庫鏈接：

HGNC: 2135

OMIM: 604563

KEGG: hsa:81846

STRING: 9606.ENSP00000256190

UniGene: Hs.577252