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TMEM67 Antibody

  • 货号：
    CSB-PA689243LA01HU
  • 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-PA689243LA01HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human small intestine tissue using CSB-PA689243LA01HU at dilution of 1:100
    • Immunofluorescent analysis of HepG2 cells using CSB-PA689243LA01HU 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) TMEM67 Polyclonal antibody
  • Uniprot No.：
    Q5HYA8
  • 基因名：
    TMEM67
  • 别名：
    TMEM67 antibody; MKS3 antibody; Meckelin antibody; Meckel syndrome type 3 protein antibody; Transmembrane protein 67 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Meckelin protein (241-500AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，TMEM67 Antibody (CSB-PA689243LA01HU)，的标记方式是Non-conjugated。对于TMEM67 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-PA689243LB01HU TMEM67 Antibody, HRP conjugated ELISA
    FITC CSB-PA689243LC01HU TMEM67 Antibody, FITC conjugated
    Biotin CSB-PA689243LD01HU TMEM67 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：
    Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).
  • 基因功能参考文献：
    1. The s results suggest that Asn242Ser in TMEM67 is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran. PMID: 28719906
    2. Low expression of TMEM67 is associated with lymph node metastasis in urothelial carcinoma of the bladder. PMID: 28161324
    3. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). PMID: 27434533
    4. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. PMID: 23393159
    5. mutation analysis of TMEM67 in Joubert syndrome and related disorders cases and Meckel syndrome fetuses; identification of 20 novel mutations; review of published mutations and discussion of genotype-phenotype correlates PMID: 20232449
    6. Data show that knockdown of MKS3 inhibited degradation of mutant SP-C. PMID: 19815549
    7. mapping to chromosome 8 and possible role in Meckel-Gruber syndrome PMID: 12384791
    8. Positional cloning of the Wpk gene suggested a MKS3 candidate gene, TMEM67, for which we identified pathogenic mutations for five MKS3-linked consanguineous families. PMID: 16415887
    9. identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6) PMID: 17160906
    10. Mutations in MKS3 is associated with Bardet-Biedl syndrome PMID: 18327255
    11. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). PMID: 19058225
    12. Missense mutations within the MKS3 gene are associated with nephronophthisis with liver fibrosis. PMID: 19508969

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  • 相关疾病：
    Meckel syndrome 3 (MKS3); Joubert syndrome 6 (JBTS6); Bardet-Biedl syndrome (BBS); COACH syndrome (COACHS); Nephronophthisis 11 (NPHP11)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body.
  • 组织特异性：
    Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord.
  • 数据库链接：

    HGNC: 28396

    OMIM: 209900

    KEGG: hsa:91147

    STRING: 9606.ENSP00000389998

    UniGene: Hs.116240