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ADAMTSL4 Antibody

  • 货号：
    CSB-PA761506ESR1HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human liver tissue using CSB-PA761506ESR1HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human adrenal gland tissue using CSB-PA761506ESR1HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) ADAMTSL4 Polyclonal antibody
  • Uniprot No.：
    Q6UY14
  • 基因名：
    ADAMTSL4
  • 别名：
    ADAMTSL4 antibody; TSRC1 antibody; PP1396 antibody; UNQ2803/PRO34012ADAMTS-like protein 4 antibody; ADAMTSL-4 antibody; Thrombospondin repeat-containing protein 1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human ADAMTS-like protein 4 protein (795-1074AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 克隆类型：
    Polyclonal
  • 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, pH7.3.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • 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：
    Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.
  • 基因功能参考文献：
    1. A recurrent pathogenic ADAMTSL4 variant is a major cause of early onset autosomal recessive ectopia lentis in a Cook Island Maori population and associated with a common haplotype, suggesting a founder effect. PMID: 28394649
    2. study reports a novel founder mutation in ADAMTSL4 gene in children of Bukharian Jewish origin presenting with early-onset bilateral ectopia lentis PMID: 26653794
    3. ADAMTSL4 mutations are the main cause for isolated ectopia lentis with an early onset of symptoms and possible severe ocular complications. PMID: 25975359
    4. Compound heterozygous c.1783dupT and c. 2594G>A mutations of ADAMTSL4 gene were causative mutations for this family with isolated non-syndromic ectopia lentis PMID: 24802351
    5. We have confirmed the gene and protein expression of ADAMTSL4 in human ocular tissue. The pattern of expression may suggest further functions of this gene beyond those suggested by its causative role in isolated ectopia lentis. PMID: 23846871
    6. This is the first detailed report of a possible genetic determinant of craniosynostosis with ectopia lentis. PMID: 22871183
    7. Patients from a family with ectopia lentis et pupillae (ELP) in four generations have autosomal recessive ELP caused by novel mutations in ADAMTSL4. PMID: 23426735
    8. Mutations in ADAMTSL4 appear to cause earlier manifestation of ectopia lentis and are associated with increased axial length. PMID: 22736615
    9. Enhanced fibrillin-1 deposition in the presence of ADAMTSL4 and colocalization of ADAMTSL4 with fibrillin-1 in the ECM of cultured fibroblasts suggest a potential role for ADAMTSL4 in the formation or maintenance of the zonule. PMID: 21989719
    10. The results emphasize the association of ADAMTSL4 null mutations with isolated ectopia lentis and the presence of a founder mutation in the European population. PMID: 21051722
    11. Ectopia lentis et pupillae is associated with a number of malformations primarily in the anterior segment of the eye. PMID: 20702823
    12. This study confirms that homozygous mutations in ADAMTSL4 are associated with autosomal-recessive ectopia lentis in British families. PMID: 20564469
    13. Herein we show a consanguineous family that carries a novel homozygous splice mutation IVS4-1G>A/IVS4-1G>A in ADAMTSL4 responsible for isolated autosomal recessive ectopia lentis. PMID: 20141359
    14. Mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and this proteins affectsthe development of the zonular fibers. PMID: 19200529

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  • 相关疾病：
    Ectopia lentis 2, isolated, autosomal recessive (ECTOL2); Ectopia lentis et pupillae (ECTOLP)
  • 亚细胞定位：
    Secreted, extracellular space, extracellular matrix. Note=Colocalizes with FMN1 microfibrils in the eye ECM.
  • 组织特异性：
    Expressed in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis and placenta. Weaker expression in bone marrow, brain tissue, kidney and pancreas. Expression studies in fetal tissues reveal strong expression in heart, kidney, liver, lun
  • 数据库链接：

    HGNC: 19706

    OMIM: 225100

    KEGG: hsa:54507

    STRING: 9606.ENSP00000271643

    UniGene: Hs.516243