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This gene encodes 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.
4930564O18Rik; KIAA0673; nephrocystin 4; nephrocystin-4; nephronophthisis 4; nephronophthisis 4 (juvenile) homolog (human); nephroretinin; nmf192; NPHP4; POC10; POC10 centriolar protein homolog; SLSN4
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