NPHP4
MIM.607215 1p36
Pathology
mutation in juvenile nephronophthisis type 4 (NPHP4)
mutation in juvenile nephronophthisis and retinitis pigmentosa association (Senior-Loken syndrome) (SLS) (locus NPHP4 in 1p36) (12205563)
See also
RPGRIP1L (mutated in Joubert syndrome type B or CORS)
- RPGRIP1L interacts with nephrocystin-4 and that mutations in the gene encoding nephrocystin-4 (NPHP4)
References
Roepman R, Letteboer SJ, Arts HH, van Beersum SE, Lu X, Krieger E, Ferreira PA, Cremers FP. Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. Proc Natl Acad Sci U S A. 2005 Dec 20;102(51):18520-5. PMID: 16339905
Hoefele J, Sudbrak R, Reinhardt R, Lehrack S, Hennig S, Imm A, Muerb U, Utsch B, Attanasio M, O?Toole JF, Otto E, Hildebrandt F. Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. Hum Mutat. 2005 Apr;25(4):411. PMID: 15776426
Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet. 2002 Oct;32(2):300-5. PMID: 12244321
Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhager R, Sudbrak R, Hennies HC, Nurnberg P, Hildebrandt F. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet. 2002 Nov;71(5):1161-7. PMID: 12205563
Schuermann MJ, Otto E, Becker A, Saar K, Ruschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nurnberg P, Hildebrandt F. Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36. Am J Hum Genet. 2002 May;70(5):1240-6. PMID: 11920287