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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| NPHP4-20-RE | 20 (40 μL) | 200 μL |  |
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| NPHP4-20-OR | 20 (40 μL) | 200 μL |  |
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| NPHP4-20-GO | 20 (40 μL) | 200 μL |  |
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| NPHP4-20-GR | 20 (40 μL) | 200 μL |  |
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| NPHP4-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Apr 2014]
Gene Symbol : NPHP4
Gene Name : Nephrocystin 4
Chromosome : CHR 1: 599,247,2-586,280,7
Locus : 1p36.31
Alt. Genes : LRPPRC
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