Recombinant Human Golgi SNAP receptor complex member 2 (GOSR2), partial

中文名稱：

人GOSR2重組蛋白
貨號：

CSB-EP009678HU
說明書：

MSDS Datasheet
規格：

￥1344
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

GOSR2
Uniprot No.：

O14653
別名：

2310032N09Rik; 27 kDa Golgi SNARE protein; Bos1; EPM6; Golgi SNAP receptor complex member 2; Golgi SNARE ; Gosr2; GOSR2_HUMAN; Gs27; Membrin; SNARE
種屬：

Homo sapiens (Human)
蛋白長度：

Cytoplasmic Domain
來源：

E.coli
分子量：

38.3kDa
表達區域：

1-190aa
氨基酸序列

MDPLFQQTHKQVHEIQSCMGRLETADKQSVHIVENEIQASIDQIFSRLERLEILSSKEPPNKRQNARLRVDQLKYDVQHLQTALRNFQHRRHAREQQERQREELLSRTFTTNDSDTTIPMDESLQFNSSLQKVHNGMDDLILDGHNILDGLRTQRLTLKGTQKKILDIANMLGLSNTVMRLIEKRAFQDK
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 6xHis-SUMO-tagged
產品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
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：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：

Please contact us to get it.

產品評價

靶點詳情

功能：

Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.
基因功能參考文獻：
1. Recessive mutations in TRAPPC11 and GOSR2 are associated with congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. PMID: 29855340
2. Molecular dynamics (MD) simulations showed that the hydrophobic core, which triggers SNARE complex formation, is compromised due to the glycine-to-tryptophan substitution in both GOSR2 and Bos1. PMID: 28982678
3. Mutations in GOSR2 reveal stringent secretory pathway demands of dendritic growth and synaptic integrity. PMID: 28978487
4. review of the phenotype/genotype of GOSR2-associated progressive myoclonus epilepsy [review] PMID: 27618868
5. The SNAREs(Soluble N-ethylmaleimide-sensitive factor attachment protein receptors), that regulate both the biogenesis and secretion of multiple lysosome-related organelles(LROs). PMID: 26760525
6. Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia. PMID: 24458321
7. A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men PMID: 23675987
8. Single nucleotide polymorphisms in the GOSR2 gene are associated with essential hypertension in Japanese men. PMID: 23313660
9. GOSR2 gene mutation is associated with progressive myoclonus epilepsy cases, all of whom came from countries bounding the North Sea, extending to the coastal region of Northern Norway. PMID: 23449775
10. This p.Gly144Trp mutation is equivalent to a loss of function and results in failure of GOSR2 protein to localize to the cis-Golgi. PMID: 21549339
11. A homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), was identified in five apparently unrelated families with a clinically distinct progressive myoclonic epilepsy syndrome. PMID: 21549339
12. These studies suggest that membrin recruits Arf-1 to the early Golgi and reveal distinct kinetic cycles for Arf-1 at early and late Golgi determined by different sets of Arf regulators and effectors. PMID: 15781476
13. We found evidence that a SNP in GOSR2 is modestly associated with hypertension in whites from the ARIC study and the WGHS. PMID: 19057520
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相關疾病：

Epilepsy, progressive myoclonic 6 (EPM6)
亞細胞定位：

Golgi apparatus, cis-Golgi network membrane; Single-pass type IV membrane protein. Golgi apparatus membrane. Endoplasmic reticulum membrane.
蛋白家族：

GOSR2 family
數據庫鏈接：

HGNC: 4431

OMIM: 604027

KEGG: hsa:9570

STRING: 9606.ENSP00000225567

UniGene: Hs.463278