Conjugation: FITC: Fluorescein Isothiocyanate
Description of Target: Together with Cas NPHP1 may play a role in the control of epithelial cell polarity. NPHP1 seems to help to recruit protein tyrosine kinase 2 beta (PTK2B) to cell matrix adhesions, thereby initiating phosphorylation of PTK2B and PTK2B-dependent signaling.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.
Immunogen: The immunogen is a synthetic peptide directed towards the middle region of human NPHP1
Key Reference: Eley,L., (2008) Biochem. Biophys. Res. Commun. 371 (4), 877-882
Molecular Weight: 83kDa
Peptide Sequence: Synthetic peptide located within the following region:
GILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGProduct Format: Liquid. Purified antibody supplied in 1x PBS buffer.
Protein Name: Nephrocystin-1
Protein Size: 733
Purification: Affinity Purified
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