NPHP1 Polyclonal Antibody

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.

Research Area: Cell Biology, Signal transduction

Synonyms:
NPHP1, JBTS4, NPH1, SLSN1

Immunogen: Recombinant fusion protein of human NPHP1 (NP_001121651.1).

Swissprot: O15259
Gene ID: 4867

Calculated MW: 69 kDa/77 kDa/83 kDa
Observed MW: 83 kDa

Purification Method: Affinity purification

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3

Concentration: 1 mg/mL
Dilution: "WB 1:500-1:2000 IF 1:50-1:100"

Storage:
Store at -20°C. Avoid freeze / thaw cycles.

Citation(s):
https://www.biorxiv.org/content/10.1101/2020.03.20.000091v1.abstract