Recombinant Human Nephrocystin 4 protein (ab166100)
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Overview
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Product nameRecombinant Human Nephrocystin 4 protein
See all Nephrocystin 4 proteins and peptides -
Protein lengthProtein fragment
Description
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NatureRecombinant
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SourceWheat germ
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Amino Acid Sequence
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SpeciesHuman
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SequenceASWLVCLCCRQPLISKAFEIMLAAGEGKGVNKRITYTNPYPSRRTFHLHS DHPELLRFREDSFQVGGGETYTIGLQFAPSQRVGEEEILIYINDHEDKNE EAFCVKVIYQ
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Amino acids1317 to 1426
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Tagsproprietary tag N-Terminus
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Specifications
Our Abpromise guarantee covers the use of ab166100 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
ELISA
Western blot
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FormLiquid
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Additional notesProtein concentration is above or equal to 0.05 mg/ml.
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Concentration information loading...
Preparation and Storage
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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
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Alternative names
- KIAA0673
- Nephrocystin-4
- nephronophthisis 4
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Tissue specificityExpressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung.
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Involvement in diseaseDefects 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 similaritiesBelongs to the NPHP4 family.
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Cellular localizationCytoplasm > cytoskeleton > cilium basal body. Cytoplasm > cytoskeleton > centrosome.
- Information by UniProt
Images
Datasheets and documents
References
ab166100 has not yet been referenced specifically in any publications.