Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MCGAFSTQAGAVEKTLFDISPAPGAPVGMLGEDPPVHVRCSDPNVICETQ NVGPGEPRDIFLKVASGPSPEIKDFFVIIYS
    • Amino acids
      1 to 81
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab166099 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
    • KIAA0673
    • Nephrocystin-4
    • nephronophthisis 4
    • Nephroretinin
    • NPHP4
    • NPHP4_HUMAN
    • POC10
    • POC10 centriolar protein homolog
    • SLSN4
    see all
  • Tissue specificity
    Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung.
  • Involvement in disease
    Defects in NPHP4 are the cause of nephronophthisis type 4 (NPHP4) [MIM:606966]; also known as familial juvenile nephronophthisis 4. NPHP4 is an autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
    Defects in NPHP4 are the cause of Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]. SLSN is a renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
  • Sequence similarities
    Belongs to the NPHP4 family.
  • Cellular localization
    Cytoplasm > cytoskeleton > cilium basal body. Cytoplasm > cytoskeleton > centrosome.
  • Information by UniProt

Images

  • ab166099 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab166099 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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