NPHP4

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Nephronophthisis 4, also known as NPHP4, is a human gene. This gene encodes a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and function. This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative transcript variants have been described but their full-length nature has not been determined.

Further reading

• Ishikawa K, Nagase T, Suyama M; et al. (1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (3): 169–76. PMID 9734811.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schuermann MJ, Otto E, Becker A; et al. (2002). "Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36". Am. J. Hum. Genet. 70 (5): 1240–6. PMID 11920287.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Donaldson JC, Dise RS, Ritchie MD, Hanks SK (2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". J. Biol. Chem. 277 (32): 29028–35. doi:10.1074/jbc.M111697200. PMID 12006559.CS1 maint: Multiple names: authors list (link)
• Otto E, Hoefele J, Ruf R; et al. (2003). "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution". Am. J. Hum. Genet. 71 (5): 1161–7. PMID 12205563.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mollet G, Salomon R, Gribouval O; et al. (2002). "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin". Nat. Genet. 32 (2): 300–5. doi:10.1038/ng996. PMID 12244321.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mollet G, Silbermann F, Delous M; et al. (2005). "Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes". Hum. Mol. Genet. 14 (5): 645–56. doi:10.1093/hmg/ddi061. PMID 15661758.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hoefele J, Sudbrak R, Reinhardt R; et al. (2006). "Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis". Hum. Mutat. 25 (4): 411. doi:10.1002/humu.9326. PMID 15776426.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Roepman R, Letteboer SJ, Arts HH; et al. (2006). "Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations". Proc. Natl. Acad. Sci. U.S.A. 102 (51): 18520–5. doi:10.1073/pnas.0505774102. PMID 16339905.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Szafranski K, Schindler S, Taudien S; et al. "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns". 8 (8): R154. doi:10.1186/gb-2007-8-8-r154. PMID 17672918.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mistry K, Ireland JH, Ng RC; et al. (2007). "Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis". Am. J. Kidney Dis. 50 (5): 855–64. doi:10.1053/j.ajkd.2007.08.009. PMID 17954299.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

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