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  4. Recombinant Human Myosin-3 (MYH3), partial

Recombinant Human Myosin-3 (MYH3), partial

  • 中文名稱：
    人MYH3重組蛋白
  • 貨號：
    CSB-YP015297HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人MYH3重組蛋白
  • 貨號：
    CSB-EP015297HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人MYH3重組蛋白
  • 貨號：
    CSB-EP015297HU-B
  • 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MYH3重組蛋白
  • 貨號：
    CSB-BP015297HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人MYH3重組蛋白
  • 貨號：
    CSB-MP015297HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    MYH3
  • Uniprot No.：
  • 別名：
    embryonic; fast skeletal muscle; HEMHC; Muscle embryonic myosin heavy chain 3; Muscle embryonic myosin heavy chain; MYH 3; Myh3; MYH3_HUMAN; MYHC EMB; MYHSE 1; MYHSE1; Myosin heavy chain 3; Myosin heavy chain 3 skeletal muscle embryonic; Myosin heavy chain; Myosin heavy chain fast skeletal muscle embryonic; Myosin Heavy Polypeptide 3; Myosin heavy polypeptide 3 skeletal muscle embryonic; Myosin skeletal heavy chain embryonic 1; Myosin-3; SMHCE
  • 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：
    Muscle contraction.
  • 基因功能參考文獻：
    1. Although some MYH3 variants cause dominant Spondylocarpotarsal synostosis syndrome, these data indicate that others (notably truncating variants) do not, except in the context of compound heterozygosity for a second hypomorphic allele. PMID: 29805041
    2. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. PMID: 30228365
    3. Our findings demonstrate that dominant mutations in MYH3 underlie autosomal dominant SCT, identify a postnatal role for embryonic myosin and suggest that altered regulation of signal transduction in the muscles within the spine may lead to the development of vertebral fusions. PMID: 28205584
    4. our patient is the first reported case of a child with classical FSS, caused by a common MYH3 mutation, who has an unaffected mother with molecularly proven somatic mosaicism, who is also a likely gonadal mosaic. This case emphasizes the importance of parental genetic testing, when a clinically apparent de novo diagnosis is suspected in a child. PMID: 26996280
    5. Protein-altering variants of MYH3 were identified in two families with symptoms related to autosomal dominant spondylocarpotarsal synostosis syndrome. PMID: 27381093
    6. MYH3 mutations are associated with Freeman-Sheldon Syndrome. PMID: 26945064
    7. developmental p.Thr178Ile MYH3 myopathy is associated with a combined pathomechanism of insufficient dosage of functional embryonic MyHC and production of mutant protein PMID: 26544689
    8. The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle PMID: 25740846
    9. The phenotypic overlap among persons with MPS, coupled with physical findings distinct from other conditions caused by mutations in MYH3. PMID: 25957469
    10. Molecular genetic investigations revealed pathogenic mutations in MYH3, TPM2, and TNNI2 in one sporadic and 19 familial cases of distal arthrogryposis. PMID: 22519952
    11. eMYH plays a crucial role in important processes in the early developing heart and, hence, is a candidate causative gene for atrial septal defects and cardiomyopathy. PMID: 21862559
    12. Identification of an MYH3 mutation in this family with distal arthrogryposis type 1 broadens the phenotype associated with MYH3 mutations to include distal arthrogryposis types 1, 2A (Freeman-Sheldon syndrome), and 2B (Sheldon-Hall syndrome). PMID: 21531865
    13. show that mutations in the embryonic myosin heavy chain 3 gene cause Freeman-Sheldon syndrome, one of the most severe multiple congenital contracture syndromes, and nearly 1/3 of all cases of Sheldon-Hall syndrome, the most common distal arthrogryposis PMID: 16642020
    14. This article reports novel MYH3 mutations associated with distal arthrogryposis and demonstrates myopathic changes in muscle biopsy specimens from 4 patients with distal arthrogryposis and MYH3 mutations. PMID: 18695058
    15. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. PMID: 19142688

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  • 相關疾病：
    Arthrogryposis, distal, 2A (DA2A); Arthrogryposis, distal, 2B (DA2B); Arthrogryposis, distal, 8 (DA8)
  • 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
  • 組織特異性：
    Expressed in fetal bone, thymus, placenta, heart, brain, and liver.
  • 數據庫鏈接：

    HGNC: 7573

    OMIM: 160720

    KEGG: hsa:4621

    STRING: 9606.ENSP00000226209

    UniGene: Hs.440895



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