Nephronophthisis (NPHP1) Rabbit Polyclonal Antibody
Specifications
| Product Data | |
| Application | IHC, WB |
|---|---|
| Recommended Dilution | WB: 500-2000 WB positive control: RAW264.7 cell lysate IHC: 50-300 Positive control: Human liver cancer Predicted cell location: Cytoplasm |
| Reactivity | Human, Mouse |
| Antibody Host | Rabbit |
| Isotype | IgG |
| Clonality | Polyclonal |
| Immunogen | Fusion protein of human NPHP1 |
| Buffer | pH7.4 PBS, 0.05% NaN3, 40% Glycerol |
| Concentration | lot specific |
| Purification | Antigen affinity purification |
| Conjugation | Unconjugated |
| Storage | Store at -20°C. |
| Stability | 1 year |
| Shipping | Blue Ice |
| Predicted Protein Size | 83 kDa |
| Gene Name | nephrocystin 1 |
| Database Link | |
| 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. |
| Synonyms | FLJ97602; JBTS4; nephrocystin-1; NPH1; SLSN1 |
| Reference Data | |
| Protein Categories | Intracellular Proteins |
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*Delivery time may vary from web posted schedule. Occasional delays may occur due to unforeseen
complexities in the preparation of your product. International customers may expect an additional 1-2 weeks
in shipping.
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