Rabbit Polyclonal antibody to NPHP1This 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, Jul 2008]
Immunogen
A synthetic peptide corresponding to an Internal region of Human NPHP1
Key Feature
Clonality
Polyclonal
Isotype
IgG
Host Species
Rabbit
Tested Applications
WB
*Optimal dilutions/concentrations should be determined by the researcher.
:
WB analysis of human fetal heart tissue using NPHP1 antibody at 0.2-1μg/ml.
Positive Control
human fetal heart
Application Notes
*Optimal dilutions/concentrations should be determined by the researcher.
:
Additional Information
Form
Liquid
Storage Instructions
Keep as concentrated solution. For short-term storage, store at 4ºC. For long-term storage, aliquot and store at -20ºC or below. Avoid multiple freeze-thaw cycles.
Storage Buffer
1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.