Recombinant Human Myosin-6 (MYH6), partial

中文名稱：

人MYH6重組蛋白
貨號：

CSB-BP015299HU
規格：

￥1902
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：

MYH6
Uniprot No.：

P13533
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
來源：

Baculovirus
分子量：

80.4 kDa
表達區域：

160-816aa
氨基酸序列

NAYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFASIAAIGDRGKKDNANANKGTLEDQIIQANPALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLDMLLVTNNPYDYAFVSQGEVSVASIDDSEELMATDSAFDVLGFTSEEKAGVYKLTGAIMHYGNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQSVQQVYYSIGALAKAVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLYDNHLGKSNNFQKPRNIKGKQEAHFSLIHYAGTVDYNILGWLEKNKDPLNETVVALYQKSSLKLMATLFSSYATADTGDSGKSKGGKKKGSSFQTVSALHRENLNKLMTNLRTTHPHFVRCIIPNERKAPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQRYRILNPVAIPEGQFIDSRKGTEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRMQAQARGQLMRIEFKKIVERRDALLVI
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：

C-terminal 6xHis-tagged
產品提供形式：

Liquid or 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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
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.
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：

Muscle contraction.
基因功能參考文獻：
1. Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic Atrial Septal Defect (P<0.05); variants in FOXL2 and MYH6 were found in patients with isolated, sporadic Atrial Septal Defect (P<5x10-4). PMID: 29505555
2. We developed an human cardiac alpha-myosin -induced myocarditis model in human HLA-DR4 transgenic mice that lack all mouse MHCII genes. PMID: 28431892
3. The etiology of MYH6-associated HLHS can be informed using iPSCs. PMID: 27789736
4. Rare inherited and de novo variants in 2,871 congenital heart disease probands identified GDF1, MYH6, and FLT4 as causative genes. PMID: 28991257
5. the P830L and A1004S alphaMHC mutations alter myocyte contractility in completely different ways while at the same preserving peak intracellular calcium PMID: 28088328
6. Data show that compound heterozygosity for recessive myosin heavy chain 6 (MYH6) mutations in patients with hypoplastic left heart and reduced systemic right ventricular ejection fraction. PMID: 26085007
7. human alpha- and beta-cardiac myosin, as well as the mutants, show opposite mechanical and enzymatic phenotypes with respect to each other. PMID: 25937279
8. The novel MYH6 mutation delE933 causes both structural damage of the sarcomere and functional impairments on atrial action propagation. PMID: 25717017
9. Data from molecular dynamic/docking simulations suggest that actin-myosin binding free energy accepts contributions from both electrostatic and nonpolar forces; studies compare cardiac alpha-myosin, beta-myosin, and fast skeletal muscle myosin. PMID: 24224850
10. R1165C mutation in MYH9 gene is associated with macroscopic hematuria and presenile cataract. PMID: 22627578
11. Perturbations in the MYH6 head domain seem to play a major role in the genetic origin of familial Secundum-type atrial septal defects. PMID: 22194935
12. the alpha-isoform of myosin heavy chain is the pathogenic autoantigen for CD4+ T cells in myocarditis PMID: 21436590
13. the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant PMID: 21378987
14. data indicate that functional variants of MYH6 are associated with cardiac malformations in addition to atrial septal defect and provide a novel potential mechanism PMID: 20656787
15. The mutations in MYH6 cause when a genetic cause can be identified, which has estimated to occur in 65% of hypertrophic cardiomyopathy. PMID: 20215591
16. Our data provide evidence for a novel form of calcium-independent positive inotropy in failing cardiac myocytes by fast alpha-myosin motor protein gene transfer. PMID: 19801488
17. results show that PUR proteins are capable of binding to alpha-MHC mRNA and attenuate its translational efficiency; also show robust expression of PUR proteins in failing hearts where alpha-MHC mRNA levels are suppressed PMID: 12933792
18. Mutation in myosin heavy chain 6 causes atrial septal defect PMID: 15735645
19. Three heterozygous MYH6 missense mutations were identified in dilated cardiomyopathy probands (P830L, A1004S, and E1457K; 4.3% of probands). A Q1065H mutation was detected in 1 of 21 hypertrophic cardiomyopathy probands. PMID: 15998695
20. the large step of dimeric myosin VI is primarily made possible by a medial tail in each monomer that forms a rare single alpha-helix of approximately 10 nm, which is anchored to the calmodulin-bound IQ domain by a globular proximal tail. PMID: 18511944
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相關疾病：

Atrial septal defect 3 (ASD3); Cardiomyopathy, familial hypertrophic 14 (CMH14); Cardiomyopathy, dilated 1EE (CMD1EE); Sick sinus syndrome 3 (SSS3)
亞細胞定位：

Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
蛋白家族：

TRAFAC class myosin-kinesin ATPase superfamily, Myosin family
數據庫鏈接：

HGNC: 7576

OMIM: 160710

KEGG: hsa:4624

STRING: 9606.ENSP00000348634

UniGene: Hs.278432