Nephronophthisis (NPHP1) Rabbit Polyclonal Antibody

SKU TA335137

Rabbit polyclonal Anti-NPHP1 Antibody

Product Data

• Application: WB
• Recommended Dilution: WB
• Reactivity: Human
• Antibody Host: Rabbit
• Isotype: IgG
• Clonality: Polyclonal
• Immunogen: The immunogen for anti-NPHP1 antibody: synthetic peptide directed towards the middle region of human NPHP1. Synthetic peptide located within the following region: GILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGG
• Buffer: Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.; Note that this product is shipped as lyophilized powder to China customers.
• Purification: Affinity Purified
• Conjugation: Unconjugated
• Storage: Store at -20°C as received.
• Stability: Stable for 12 months from date of receipt.
• Shipping: Blue Ice
• Predicted Protein Size: 83 kDa
• Gene Name: nephrocystin 1
• Database Link:
  NP_000263
  O15259
• Background: Together with Cas NPHP1 may play a role in the control of epithelial cell polarity. NPHP1 seems to help to recruit protein tyrosine kinase 2 beta (PTK2B) to cell matrix adhesions, thereby initiating phosphorylation of PTK2B and PTK2B-dependent signaling.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: JBTS4; NPH1; SLSN1
• Note: Immunogen Sequence Homology: Dog: 100%; Pig: 100%; Rat: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Bovine: 100%; Rabbit: 100%; Guinea pig: 93%; Zebrafish: 92%

Reference Data

• Protein Families: Druggable Genome