NPHP1 (Nephrocystin-1, Juvenile Nephronophthisis 1 Protein, NPH1) (HRP)

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...