abx005117

antibody from Abbexa

Targeting: NPHP1 JBTS4, NPH1, SLSN1

Western blot (Recommended by provider)

Immunocytochemistry (Recommended by provider)

Antibody Data

Product number

abx005117

Provider

Abbexa

Product name

Nephrocystin-1 (NPHP1) Antibody

Antibody type

Polyclonal

Description

NPHP1 Antibody is a Rabbit Polyclonal antibody against NPHP1. 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.

Reactivity

Human, Mouse, Rat

Host

Rabbit

Conjugate

Unconjugated

Isotype

IgG

Vial size

100 µl

Concentration

> 1 mg/ml

Storage

Aliquot and store at -20°C. Avoid repeated freeze/thaw cycles.