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Official Full Name: nephrocystin 4
Also known as: POC10; SLSN4
This gene encodes a protein involved in the development and function of renal tubules. This protein interacts with nephrin, a multifunctional complex localized to actin and microtubule 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.