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MYH3 Antibody

  • 货号：
    CSB-PA015297LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human brain tissue using CSB-PA015297LA01HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human liver tissue using CSB-PA015297LA01HU at dilution of 1:100
    • Immunofluorescent analysis of HepG2 cells using CSB-PA015297LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) MYH3 Polyclonal antibody
  • Uniprot No.：
    P11055
  • 基因名：
    MYH3
  • 别名：
    embryonic antibody; fast skeletal muscle antibody; HEMHC antibody; Muscle embryonic myosin heavy chain 3 antibody; Muscle embryonic myosin heavy chain antibody; MYH 3 antibody; Myh3 antibody; MYH3_HUMAN antibody; MYHC EMB antibody; MYHSE 1 antibody; MYHSE1 antibody; Myosin heavy chain 3 antibody; Myosin heavy chain 3 skeletal muscle embryonic antibody; Myosin heavy chain antibody; Myosin heavy chain fast skeletal muscle embryonic antibody; Myosin Heavy Polypeptide 3 antibody; Myosin heavy polypeptide 3 skeletal muscle embryonic antibody; Myosin skeletal heavy chain embryonic 1 antibody; Myosin-3 antibody; SMHCE antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Myosin-3 protein (1-217AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，MYH3 Antibody (CSB-PA015297LA01HU)，的标记方式是Non-conjugated。对于MYH3 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA015297LB01HU MYH3 Antibody, HRP conjugated ELISA
    FITC CSB-PA015297LC01HU MYH3 Antibody, FITC conjugated
    Biotin CSB-PA015297LD01HU MYH3 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC, IF
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
    IF 1:50-1:200
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Muscle contraction.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Arthrogryposis, distal, 2A (DA2A); Arthrogryposis, distal, 2B (DA2B); Arthrogryposis, distal, 8 (DA8)
  • 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
  • 组织特异性：
    Expressed in fetal bone, thymus, placenta, heart, brain, and liver.
  • 数据库链接：

    HGNC: 7573

    OMIM: 160720

    KEGG: hsa:4621

    STRING: 9606.ENSP00000226209

    UniGene: Hs.440895