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Proteins originally identified as being associated with nephronophthisis. Nephrocystin-1 (732 aa) is associated with nephronophthisis-1 and mutation in the NPH1 gene are responsible for ~85% of the purely renal forms of juvenile nephronophthisis. It interacts with p130Cas (BCAR1), proline-rich tyrosine kinase-2 (PTK2B), and tensin in embryonic kidney and testis. A related protein, nephrocystin-4 (nephroretinin,1426 aa), is mutated in juvenile nephrophthisis-4 and is involved in similar signalling complexes; the proteins interact with one another and colocalize with α-tubulin especially in primary cilia and the microtubule organizing centre. Nephrocystin-2 (inversin, 1065) is mutated in juvenile nephrophthisis-2, nephrocystin-3 (1330 aa) in adolescent nephrophthisis (nephrophthisis-3). Nephrocystin-5 (IQ motif-containing protein B1, IQCB1; p53- and DNA damage-regulated IQ motif protein, PIQ, 598 aa) interacts with calmodulin and the retinitis pigmentosa GTPase regulator and mutations are associated with Senior–Loken syndrome. Nephrocystin-6 (2479 aa) is associated with Meckel's syndrome type 4.

Subjects: Medicine and Health.

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