NPHP1 polyclonal antibody

• 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.

• Structure Composition:

  1mg/ml in PBS with 0.02% sodium azide, 50% glycerol, pH7.2

• Product Name Alternative:

  NPHP1; JBTS4; NPH1; SLSN1

• Swiss Prot:

  O15259

• Reactivity:

  Human, Mouse, Rat

• Immunogen:

  Recombinant fusion protein containing a sequence corresponding to amino acids 463-732 of human NPHP1 (NP_997064.2) .

• Conjugation:

  Unconjugated

• Applications:

  WB, IHC-P, IF/ICC

• Dilution:

  WB,1:500 - 1:1000|IHC-P,1:50 - 1:200|IF/ICC,1:50 - 1:200

• Purity:

  The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE) .

• Modification:

  Unmodified

• Molecular Weight:

  83KDa

• Storage Conditions:

  Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles.

• Notes:

  For research use only, not for use in diagnostic procedure.

• Specificity:

  Polyclonal Antibodies

• Host or Source:

  Rabbit

• CAS Number:

  9007-83-4