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重组NPHP4蛋白
产品名称 Recombinant Nphp4 Recombinant nephronophthisis 4 (juvenile) homolog (human) protein 产品介绍
基因名: Nphp4 产品别名: 4930564O18Rik; nmf192; Nphp4; nephronophthisis 4 (juvenile) homolog (human); nephronophthisis 4 (juvenile) homolog (human); nephrocystin-4; nephroretinin; NPHP4蛋白; 背景信息: 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. [provided by RefSeq, Apr 2014] |
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