NPHP1 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.

• NCBI Gene ID:

  4867

• Swiss Prot:

  O15259

• Host:

  Rabbit

• Reactivity:

  Human, Mouse, Rat

• Immunogen:

  Recombinant fusion protein containing a sequence corresponding to amino acids 345-614 of human NPHP1 (NP_001121651.1) .

• Clonality:

  Polyclonal

• Conjugation:

  Unconjugated

• Type:

  Primary Antibodies

• Field of Research:

  Cell Cycle, Signal Transduction

• Purification:

  Affinity purification

• Positive Control:

  Mouse lung

• Concentration:

  Batch dependent

• Buffer:

  PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

• Modification:

  None

• Shipping Conditions:

  Blue Ice

• Storage Conditions:

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

• Calculated Molecular Weight:

  Observed: 83kDa

• Fragment:

  IgG

• Symbol:

  NPHP1

• Positive Control 2:

  Rat brain

• NCBI Official Name:

  Nephrocystin 1

• NCBI Organism:

  Homo sapiens

• Other Product Names:

  JBTS4, NPH1, SLSN1, nephrocystin-1, juvenile nephronophthisis 1 protein, nephronophthisis 1 (juvenile)

• Tested Applications:

  WB, IF

• Physical Properties:

  Liquid