NPHP1 Antibody

JBTS4, NPH1, SLSN1, nephrocystin-1, juvenile nephronophthisis 1 protein, nephronophthisis 1 (juvenile)

WB: 1:500 - 1:2000

IF: 1:50 - 1:100

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.

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

batch dependent

Unconjugated

Optimal dilutions/concentrations should be determined by the end user. The information provided is a guideline for product use. This product is for research use only.

Recombinant fusion protein containing a sequence corresponding to amino acids 345-614 of human NPHP1 (NP_001121651.1).

4867

nephrocystin 1

NPHP1

Homo sapiens

Liquid

Observed: 83kDa

Affinity purification

Cell Cycle, Signal Transduction

O15259

Optimal dilutions for each application to be determined by the researcher.