| Product description |
Rabbit polyclonal to NephronophthisisJuvenile 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. Its gene product, nephrocystin, is a novel protein of unknown function, which contains a src-homology 3 domain.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.It is hypothesized that the NPHP1 gene product, nephrocystin, is involved in signaling processes at focal adhesions (cell and extracellular matrix contact) and/or adherens junctions (cell-cell contact). The hypothesis is based on the fact that most src-homology 3 -containing proteins are part of focal adhesion signaling complexes. Additionally, nephrocystin binds to p130(cas), a prominent participant in focal adhesion signaling. |
