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WDR19 Antibody

  • 货号：
    CSB-PA026001GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q8NEZ3
  • 基因名：
    WDR19
  • 别名：
    DYF 2 antibody; DYF2 antibody; FLJ23127 antibody; IFT144 antibody; Intraflagellar transport 144 homolog antibody; KIAA1638 antibody; ORF26 antibody; Oseg6 antibody; PWDMP antibody; WD repeat containing protein 19 antibody; WD repeat domain 19 antibody; WD repeat membrane protein PWDMP antibody; WD repeat-containing protein 19 antibody; Wdr19 antibody; WDR19_HUMAN antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human WDR19
  • 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 0.1% 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
  • 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：
    As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or assembly. Essential for functional IFT-A assembly and ciliary entry of GPCRs. Associates with the BBSome complex to mediate ciliary transport.
  • 基因功能参考文献：
    1. Case Reports: that WDR19 mutations can cause dysplastic kidney in addition to nephronophthisis in infants with Sensenbrenner syndrome. PMID: 28621010
    2. Nephronophthisis 13 (Autosomal Recessive Polycystic Kidney Disease) is associated with mutations in the WDR19 gene.Caroli disease is a major extra-renal phenotype associated with mutations in WDR19 in the Korean population. PMID: 25726036
    3. WDR19 mutations can cause a broad spectrum of ciliopathies that extends to Jeune and Sensenbrenner syndromes, RP and renal NPHP-like phenotypes PMID: 24504730
    4. Mutations in WDR19 gene is associated with Caroli disease. PMID: 23559409
    5. WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. PMID: 23683095
    6. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19 PMID: 22019273
    7. Expressed in normal and neoplastic prostate epithelium and is regulated by androgenic hormones. PMID: 12906858
    8. Overexpression of WDR19 is associated with prostate cancer PMID: 18316561

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  • 相关疾病：
    Cranioectodermal dysplasia 4 (CED4); Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5); Nephronophthisis 13 (NPHP13); Senior-Loken syndrome 8 (SLSN8)
  • 亚细胞定位：
    Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium, photoreceptor outer segment.
  • 组织特异性：
    Some isoforms are tissue-specific. Highly expressed in the prostate. Lower expression in the cerebellum, pituitary gland, fetal lung, and pancreas. In normal prostate, expressed in both basal and luminal epithelial cells. No expression detected in fibromu
  • 数据库链接：

    HGNC: 18340

    OMIM: 608151

    KEGG: hsa:57728

    STRING: 9606.ENSP00000382717

    UniGene: Hs.438482