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MYH3 Antibody, FITC conjugated

  • 中文名稱:
    MYH3兔多克隆抗體, FITC偶聯(lián)
  • 貨號(hào):
    CSB-PA015297LC01HU
  • 規(guī)格:
    ¥880
  • 其他:

產(chǎn)品詳情

  • 產(chǎn)品名稱:
    Rabbit anti-Homo sapiens (Human) MYH3 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    MYH3
  • 別名:
    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
  • 反應(yīng)種屬:
    Human
  • 免疫原:
    Recombinant Human Myosin-3 protein (1-217AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標(biāo)記方式:
    FITC
  • 克隆類型:
    Polyclonal
  • 抗體亞型:
    IgG
  • 純化方式:
    >95%, Protein G purified
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 產(chǎn)品提供形式:
    Liquid
  • 儲(chǔ)存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    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.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能:
    Muscle contraction.
  • 基因功能參考文獻(xiàn):
    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(guān)疾病:
    Arthrogryposis, distal, 2A (DA2A); Arthrogryposis, distal, 2B (DA2B); Arthrogryposis, distal, 8 (DA8)
  • 亞細(xì)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(shù)據(jù)庫(kù)鏈接:

    HGNC: 7573

    OMIM: 160720

    KEGG: hsa:4621

    STRING: 9606.ENSP00000226209

    UniGene: Hs.440895



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