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SMPX Antibody

  • 中文名稱：
    SMPX兔多克隆抗體
  • 貨號(hào)：
    CSB-PA021851GA01HU
  • 規(guī)格：
    ￥3,900
  • 其他：

產(chǎn)品詳情

  • Uniprot No.：
  • 基因名：
    SMPX
  • 別名：
    1010001C09Rik antibody; Csl antibody; DFNX4 antibody; RP23-60A1.5 antibody; Small muscular protein antibody; SMPX antibody; SMPX_HUMAN antibody; Stretch-responsive skeletal muscle protein antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human SMPX
  • 免疫原種屬：
    Homo sapiens (Human)
  • 抗體亞型：
    IgG
  • 純化方式：
    Antigen Affinity purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA,WB,IHC
  • Protocols：
  • 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：
    Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.
  • 基因功能參考文獻(xiàn)：
    1. detected a single nucleotide variation in two male controls with normal hearing, SMPX c.55A>G (p.Asn19Asp), which has been annotated as a rare variant in the Single Nucleotide Polymorphism (dbSNP) (rs759552778) and Exome Aggregation Consortium (ExAC) databases. This study has enriched the mutation spectrum of the SMPX gene PMID: 29559740
    2. Results show that SMPX expression is regulated by NOR-1 which binds to SMPX promoter and induces its activity promoting myotube differentiation. PMID: 27181368
    3. We report the first SMPX (DFNX4) mutation in a North American family. Our findings contribute to the existing genotypic and phenotypic spectrum of SMPX associated hearing loss. Furthermore, our data suggest that exome sequencing is promising in the genetic diagnosis of hearing loss PMID: 29287879
    4. A novel frameshift mutation in SMPX. PMID: 28542515
    5. Audiological, medical, and family histories were collected and family members interviewed to compare hearing thresholds and case histories between cases with mutations in SMPX versus POU3F4. PMID: 24687041
    6. SMPX is localized predominantly in repetitive double stripes flanking the Z-disc, and not present in nuclei. PMID: 24936977
    7. Data indicate founder mutation in exon 3 (c.99delC) of SMPX that cosegregates in two Newfoundland families. PMID: 22911656
    8. Demonstrate phenotypic heterogeneity in large family with an X-linked pattern of inherited sensorineural hearing impairment with SMPX mutations. PMID: 21893181
    9. Our study identified mutations in SMPX in patients with X-chromosomal hearing impairment and suggested that the stress response of mechanically challenged inner-ear cells might critically depend on SMPX function. PMID: 21549336
    10. This study identifies SMPX as a gene in which variation is associated with X-linked deafness and illustrates that NGS is instrumental in the efficient identification of disease-causing variants in unexpected genes. PMID: 21549342

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  • 相關(guān)疾病：
    Deafness, X-linked, 4 (DFNX4)
  • 蛋白家族：
    SMPX family
  • 組織特異性：
    Preferentially and abundantly expressed in heart and skeletal muscle.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 11122

    OMIM: 300066

    KEGG: hsa:23676

    STRING: 9606.ENSP00000368808

    UniGene: Hs.734084