Recombinant Human Nance-Horan Syndrome Protein (ab158996)

Overview

  • Product name
    Recombinant Human Nance-Horan Syndrome Protein
  • Protein length
    Protein fragment

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      TAESPQSTDDAHQGSQGAEALSPLSPCSPRVNAEGFSSKSFATSASARVG RSRAPPAASSSRYSVRCRLYNTPMQAISEGETENSDGSPHDDRSSQSS
    • Amino acids
      1532 to 1629
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab158996 in the following tested applications.

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

  • Applications

    ELISA

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • Congenital cataracts and dental anomalies protein
    • CXN
    • Nance-Horan syndrome protein
    • nhs
    • NHS_HUMAN
    • RP3-389A20.6
    • SCML1
    see all
  • 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

Images

  • ab158996 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab158996 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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