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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Nephrocystin-4; Nephroretinin; POC10 centriolar protein homolog
基因别名: KIAA0673; NPHP4; POC10; SLSN4
UniProt ID: (Human) O75161
Entrez Gene ID: (Human) 261734