NPHP1 antibody

Catalog Number:

39091

Amount:

100μg

Price:

$319

Swiss-Prot No:

Swiss-Prot#: O15259
NCBI Gene ID: 4867

Form of Antibody:

Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.

Storage/Stability:

Immunogen:

Recombinant protein of human NPHP1.

Purification:

Antibodies were purified by affinity purification using immunogen.

Specificity/Sensitivity:

The antibody detects endogenous level of total NPHP1 antibody.

Applications:

WB,IF

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.

References:

appl_detail:

WB 1:500 - 1:2000
IF 1:50 - 1:100

Datasheet PDF