Recombinant Human Nephronophthisis Protein

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Product Details

Summary
Reactivity HuSpecies Glossary
Applications WB, ELISA, PA

Order Details

Recombinant Human Nephronophthisis Protein Summary

Description
Recombinant protein with GST-tag at N-terminal corresponding to the amino acids 1 - 121 of Human NPHP1 full-length ORF

Source: Wheat Germ (in vitro)

Amino Acid Sequence:MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEYASFLPFFFLF

Details of Functionality
This protein is not active and should not be used for experiments requiring activity.
Protein/Peptide Type
Recombinant Protein
Gene
NPHP1
Purity
>80%, by SDS-PAGE

Applications/Dilutions

Application Notes
This protein has not been tested for any functionality. Product may contain endotoxins and is not suitable for use with live cells.

Packaging, Storage & Formulations

Storage
Store at -80C. Avoid freeze-thaw cycles.
Buffer
50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
Purity
>80%, by SDS-PAGE

Notes

This product is produced by and distributed for Abnova, a company based in Taiwan.

Alternate Names for Recombinant Human Nephronophthisis Protein

  • FLJ97602
  • JBTS4NPH1Juvenile nephronophthisis 1 protein
  • nephrocystin 1
  • nephrocystin-1
  • nephronophthisis 1 (juvenile)
  • SLSN1

Background

This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

Limitations

This product is for research use only and is not approved for use in humans or in clinical diagnosis. Peptides and proteins are guaranteed for 3 months from date of receipt.

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Video Protocols

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Bioinformatics

Gene Symbol NPHP1