Nephrocystin-1 (NPHP1) Antibody
Description
Anti-Nephrocystin-1 (NPHP1) antibody is validated on mouse tissue and recommended for immunofluorescence labeling, IHC, or western blot of materials from rodent and human tissues. Nephrocystin-1 is encoded by the NPHP1 gene in human. The protein of nephrocystin-1 contains src homology domain 3 (SH3). It is involved in the organization of apical junctions and the regulation of intraflagellar transport (IFT) during cilia assembly. Mutations in NPHP1 cause familial juvenile nephronophthisis type 1 (OMIM 256100), 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.
| Application: | Immunofluorescence, Immunohistochemistry, Western Blot |
|---|---|
| Clonality: | Polyclonal |
| Concentration: | 0.25 mg/ml |
| Conjugation: | Unconjugated |
| Host: | Rabbit |
| Immunogen: | Synthetic peptide (18-aa) derived from the N-terminal region of mouse NPHP1 protein |
| Isotype: | IgG |
| Purification: | Affinity Chromatography |
| Reactivity: | Human, Mouse, Rat |
| Species Homology: | Synthetic peptide sequence is identical to rat sequence (showing 88.9% homology to human sequence) |
| Storage: | -20°C |
| Storage Buffer: | PBS, pH 7.2, 0.1% Sodium Azide |