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MKS1 Antibody

  • 货号：
    CSB-PA014615GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9NXB0
  • 基因名：
    MKS1
  • 别名：
    B8d3 antibody; BBS13 antibody; Dysencephalia splanchnocystica antibody; FABB proteome like protein antibody; FLJ20345 antibody; Gruber syndrome antibody; Meckel gruber syndrome antibody; Meckel gruber syndrome type 1 antibody; Meckel syndrome antibody; Meckel syndrome type 1 antibody; Meckel syndrome type 1 protein antibody; Meckel syndrome type 1 protein homolog antibody; MES antibody; MKS 1 antibody; MKS antibody; Mks1 antibody; MKS1_HUMAN antibody; POC12 antibody; POC12 centriolar protein homolog antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human BBS13
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IF
  • 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：
    Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.
  • 基因功能参考文献：
    1. we have described a pathogenic variant in the MKS1 resulting in a mild Joubert syndrome phenotype, which broadens the spectrum of mutations in the MKS1. PMID: 27570071
    2. Dnah11(avc)(4) did not disrupt SHF Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF Hh signaling and caused AVSDs without heterotaxy.We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans PMID: 27340223
    3. MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content. PMID: 26490104
    4. describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome PMID: 24886560
    5. identification of a gene, MKS1,(Meckel syndrome) mutated in MKS families linked to 17q. PMID: 16415886
    6. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. PMID: 17185389
    7. Study concluded that MKS1 and MKS3 account for the majority of Meckel-Gruber syndrome; polydactyly is usually found in MKS1 but rare in MKS3; cases with no, or milder, CNS phenotypes were only found in MKS3. PMID: 17377820
    8. genotyping of MKS1 & MKS3 genes in a large, multiethnic cohort of 120 independent cases of Meckel syndrome; first results indicate that the MKS1 & MKS3 genes are each responsible for about 7% of MKS cases with various mutations in different populations PMID: 17397051
    9. Our results indicate that MKS1 mutations are not restricted to the Caucasian gene pool and suggest splicing defects are a crucial mutational mechanism in MKS1, and further genetic heterogeneity for MKS. PMID: 17437276
    10. Mutations in MKS1 is associated with Bardet-Biedl syndrome PMID: 18327255
    11. MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1, MKSR-2), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins PMID: 19208769
    12. Kidney tissue and cells from MKS1 and MKS3 patients showed defects in centrosome and cilia number, including multi-ciliated respiratory-like epithelia, and longer cilia. PMID: 19515853

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  • 相关疾病：
    Meckel syndrome 1 (MKS1); Bardet-Biedl syndrome 13 (BBS13); Joubert syndrome 28 (JBTS28)
  • 亚细胞定位：
    Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
  • 数据库链接：

    HGNC: 7121

    OMIM: 249000

    KEGG: hsa:54903

    STRING: 9606.ENSP00000376827

    UniGene: Hs.408843