NPHP4 (Nephrocystin-4, Nephroretinin, KIAA0673)

Size

£698.00

SKU:: 130499
Purity:: Ascites
Storage Conditions:: -20°C
Supplier:: United States Biological
Host:: Mouse
Immunogen:: Partial recombinant protein corresponding to aa1317-1426 from human NPHP4 (NP_055917.1) with GST tag. MW of GST tag alone is 26kD.
Clone:: 4D4
Format:: Supplied as a liquid in ascites fluid.
Extra Details:: Defects in NPHP4 are the cause of nephronophthisis type 4 (NPHP4) [MIM:606966]; also known as familial juvenile nephronophthisis 4. NPHP4 is an autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Defects in NPHP4 are the cause of Senior-Loken syndrome type 4 (SLSN4) [MIM:606996]. SLSN is a renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. Applications: Suitable for use in ELISA. Other applications not tested. Recommended Dilution: Optimal dilutions to be determined by the researcher. Amino Acid Sequence: ASWLVCLCCRQPLISKAFEIMLAAGEGKGVNKRITYTNPYPSRRTFHLHSDHPELLRFREDSFQVGGGETYTIGLQFAPSQRVGEEEILIYINDHEDKNEEAFCVKVIYQ Storage and Stability: May be stored at 4°C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20°C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Shipping Conditions:: Blue Ice