Anti-Nance-Horan Syndrome Protein antibody (ab122177)

Overview

  • Product name
    Anti-Nance-Horan Syndrome Protein antibody
  • Description
    Rabbit polyclonal to Nance-Horan Syndrome Protein
  • Tested applications
    Suitable for: ICC/IF, IHC-Pmore details
  • Species reactivity
    Reacts with: Human
  • Immunogen

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

  • Positive control
    • Human liver tissue.

Properties

  • Form
    Liquid
  • Storage instructions
    Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.
  • Storage buffer
    pH: 7.20
    Preservative: 0.02% Sodium azide
    Constituents: 59% PBS, 40% Glycerol
  • Concentration information loading...
  • Purity
    Immunogen affinity purified
  • Clonality
    Polyclonal
  • Isotype
    IgG
  • Research areas

Applications

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.

Application Abreviews Notes
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.

Target

  • Function
    Unknown. May have a key functions in the regulation of eye, tooth, brain and craniofacial development.
  • Tissue specificity
    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.
  • Involvement in disease
    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.
  • Sequence similarities
    Belongs to the NHS family.
  • Cellular localization
    Nucleus.
  • Information by UniProt
  • Database links
  • Alternative names
    • 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

Images

  • 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.

References

ab122177 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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