Anti-NPHP1 Polyclonal Antibody

Conjugation :

Unconjugate

Host :

Rabbit

Clonality :

Polyclonal Antibody

Gene symbol :

NPHP1

Immunogen :

Recombinant protein of human NPHP1

Synonym :

NPH1;JBTS4;SLSN1

Isotype :

IgG

Gene ID :

4867

Clone No :

Swiss Port :

O15259

Molecular weight :

83kDa

Purification :

Affinity purification

Reactivity :

Human Mouse

Application :

IHC

Recommended dilution :

IHC 1:25-100.

Subcellular location :

Cell junction Cell projection Cytoplasm adherens junction cilium cilium axoneme cytoskeleton tight junction

Storage :

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

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.