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Overview
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Background
The nephrocystin proteins comprise a family of five enzymes that commonly interact with p130Cas, proline-rich tyrosine kinases, calmodulin and tensin, indicating that these proteins may participate in a common signaling pathway. Localized to the outer segments and primary cilia of photoreceptor cells, nephrocystin-5 is complexed with RPGR (retinitis pigmentosa GTPase regulator) and interacts directly with calmodulin. Nephrocystin-5 is thought to participate with RPGR in a pathway of ciliary function in the kidey and retina. Mutations in the gene encoding nephrocystin-5 are the primary cause of Senior-Loken syndrome 5, a juvenile disorder characterized by defects in the waste filtering system of the kidney, as well as retinal degradation.
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