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  4. Recombinant Human Myosin-6 (MYH6), partial

Recombinant Human Myosin-6 (MYH6), partial

  • 货号：
    CSB-EP015299HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-MP015299HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    Greater than 85% as determined by SDS-PAGE.
  • 基因名：
  • Uniprot No.：
  • 别名：
    cardiac muscle alpha isoform; MYH6; MYH6_HUMAN; MYHC; MyHC-alpha; MyHC-beta ; MYHCA; MYHCB; Myosin heavy chain 6; Myosin heavy chain; Myosin heavy chain cardiac muscle alpha isoform; Myosin heavy chain cardiac muscle beta isoform; Myosin-6
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 表达区域：
    160-816aa
  • 氨基酸序列
    NAYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFASIAAIGDRGKKDNANANKGTLEDQIIQANPALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLDMLLVTNNPYDYAFVSQGEVSVASIDDSEELMATDSAFDVLGFTSEEKAGVYKLTGAIMHYGNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQSVQQVYYSIGALAKAVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLYDNHLGKSNNFQKPRNIKGKQEAHFSLIHYAGTVDYNILGWLEKNKDPLNETVVALYQKSSLKLMATLFSSYATADTGDSGKSKGGKKKGSSFQTVSALHRENLNKLMTNLRTTHPHFVRCIIPNERKAPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQRYRILNPVAIPEGQFIDSRKGTEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRMQAQARGQLMRIEFKKIVERRDALLVI
  • 蛋白标签：
    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.
  • 产品提供形式：
    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.
  • 复溶：
    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.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    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.
  • 注意事项：
    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.

产品评价

靶点详情

  • 功能：
    Muscle contraction.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Atrial septal defect 3 (ASD3); Cardiomyopathy, familial hypertrophic 14 (CMH14); Cardiomyopathy, dilated 1EE (CMD1EE); Sick sinus syndrome 3 (SSS3)
  • 亚细胞定位：
    Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
  • 蛋白家族：
    TRAFAC class myosin-kinesin ATPase superfamily, Myosin family
  • 数据库链接：

    HGNC: 7576

    OMIM: 160710

    KEGG: hsa:4624

    STRING: 9606.ENSP00000348634

    UniGene: Hs.278432