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NPHP4 is a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants.
Gene Name: | Nephronophthisis 4 |
Synonyms: | NPHP4 |
Target Sequences: | NM_015102 NP_055917.1 O75161 |
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