NPHP1 polyclonal, anti-human, mouse

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.

Synonyms: NPH1, JBTS4, SLSN1

Cellular Location: Cytoplasm

Immunogen:
Recombinant protein of human NPHP1

Gene Symbol: NPHP1

Gene ID: 4867

Swiss prot: O15259

Calculated MW: 83kDa

Recommended dilution:
IHC 1:25-100

Purity:
Affinity purification

Storage Buffer:
Buffer: PBS with 0.03% Proclin300, 50% glycerol, pH7.3.

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