Entrez gene ID | | 261734 |
Official gene symbol | | NPHP4 |
Full name | | nephronophthisis 4 |
Aliases | | ,FLJ46306,KIAA0673,POC10,SLSN4, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1p36.22 |
Gene position | | 6052531 - 5922870 Map Viewer |
Gene orientation | | minus |
Gene size | | 129662 bp |
Gene sequence |
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OMIM ID | | 607215 |
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