Anti-Nance-Horan Syndrome Protein抗体(ab122177)

概述

  • 产品名称
    Anti-Nance-Horan Syndrome Protein抗体
  • 描述
    兔多克隆抗体to Nance-Horan Syndrome Protein
  • 经测试应用
    适用于: ICC/IF, IHC-Pmore details
  • 种属反应性
    与反应: Human
  • 免疫原

    antigen sequence, corresponding to amino acids 1139-1281 of Human Nance-Horan Syndrome Protein.

  • 阳性对照
    • Human liver tissue.

性能

  • 形式
    Liquid
  • 存放说明
    Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
  • 存储溶液
    pH: 7.20
    Preservative: 0.02% Sodium azide
    Constituents: 59% PBS, 40% Glycerol
  • Concentration information loading...
  • 纯度
    Immunogen affinity purified
  • 克隆
    多克隆
  • 同种型
    IgG
  • 研究领域

应用

Our Abpromise guarantee covers the use of ab122177 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

应用 Ab评论 说明
ICC/IF Use a concentration of 1 - 4 µg/ml.

Recommend PFA Fixation and Triton X-100 treatment

IHC-P 1/20 - 1/50. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.

靶标

  • 功能
    Unknown. May have a key functions in the regulation of eye, tooth, brain and craniofacial development.
  • 组织特异性
    Detected at low levels in all tissues analyzed. Detected in fetal and adult brain, lens, retina, retinal pigment epithelium, placenta, lymphocytes and fibroblasts. Levels in retinal pigment epithelium, placenta, lymphocytes, and fibroblasts are very low. Expressed also in kidney, lung and thymus.
  • 疾病相关
    Defects in NHS are the cause of Nance-Horan syndrome (NHS) [MIM:302350]; also known as cataract-dental syndrome. NHS is a rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. Distinctive dental anomalies are seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental anomalies and the characteristic facial features described.
    Defects in NHS are the cause of cataract congenital X-linked (CXN) [MIM:302200]. A X-linked form of cataract, manifesting as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. Note=Caused by copy number variations predicted to result in altered transcriptional regulation of the NHS gene: a 0.8 Mb segmental duplication-triplication encompassing the NHS, SCML1 and RAI2 genes, and an 4.8 kb intragenic deletion in NHS intron 1.
  • 序列相似性
    Belongs to the NHS family.
  • 细胞定位
    Nucleus.
  • Information by UniProt
  • 数据库链接
  • 别名
    • Congenital cataracts and dental anomalies protein antibody
    • CXN antibody
    • Nance-Horan syndrome protein antibody
    • nhs antibody
    • NHS_HUMAN antibody
    • RP3-389A20.6 antibody
    • SCML1 antibody
    see all

Anti-Nance-Horan Syndrome Protein antibody 图像

  • Immunofluorescent staining of Human cell line U-2 OS shows positivity in nucleus but not nucleoli. Recommended concentration of ab122177 1-4 µg/ml. Cells treated with PFA/Triton X-100.
  • ab122177 at 1/35 dilution staining Nance-Horan Syndrome Protein in Paraffin-embedded Human Liver tissue by Immunohistochemistry.

Anti-Nance-Horan Syndrome Protein antibody (ab122177)参考文献

ab122177 has not yet been referenced specifically in any publications.

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