NPHP1 Polyclonal Antibody
Sizes: 60μL, 120μL, 200μL
Catalogue Numbers: E-AB-19106-60, E-AB-19106-120, E-AB-19106-200
Citations, Manuals and MSDS Available upon request.
Abbreviation: NPHP1
Target Synonym: JBTS4; Juvenile nephronophthisis 1 protein; Nephrocystin 1; nephronophthisis 1 (juvenile); Nephronophthisis; NPH1; NPHP1; SLSN1
Research Areas: Cell Biology, Signal transduction
Conjugation: Unconjugated
Host: Rabbit
Species Reactivity: Human
Application: IHC, ELISA
Isotype: IgG
Clonality: Polyclonal
UNIProt ID: O15259
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.
Concentration: 1.32 mg/mL
Immunogen: Fusion protein of human NPHP1
Buffer: PBS with 0.05% NaN3 and 40% Glycerol, pH7.4
Purification Method: Antigen affinity purification
Dilution: IHC 1:50-1:300, ELISA 1:5000-1:10000
Storage: -20°C/One year. Avoid freeze / thaw cycles.
Shipping: Ice bag
Research Use Only