The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 2 - 10 µg/ml. Detects a band of approximately 90 kDa.
Use a concentration of 2 - 10 µg/ml.
Juvenile nephronophthsis, an autosomal recessive cystic kidney disease, is the primary cause for chronic renal failure in children. The gene for nephronophthsis type 1 (NPHP1) has recently been identified. Nephronophthisis together with Cas it may play a role in the control of epithelial cell polarity. Seems to help to recruit protein tyrosine kinase 2 beta (PTK2B) to cell matrix adhesions, thereby initiating phosphorylation of PTK2B and PTK2B-dependent signaling .
NPHP1 expression has been studied in mouse and human systems. Expression in the human adult is widespread but relatively weak. In contrast, expression in adult mouse is strong and localized to the testis. In situ hybridization to whole mouse embryo demonstrates widespread and consistently strong expression throughout all developmental stages. 4 isoforms exist, produced by alternative splicing.
Murga-Zamalloa CA et al. Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. Mol Vis16:1373-81 (2010).
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