NPHP4

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Identifiers
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External IDsGeneCards: [1]
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SpeciesHumanMouse
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RefSeq (protein)

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Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.[1][2][3]

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.[3]

References

  1. 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 (Apr 2002). "Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36". Am J Hum Genet. 70 (5): 1240–6. doi:10.1086/340317. PMC 447598. PMID 11920287.
  2. 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 (Oct 2002). "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution". Am J Hum Genet. 71 (5): 1161–7. doi:10.1086/344395. PMC 385091. PMID 12205563.
  3. 3.0 3.1 "Entrez Gene: NPHP4 nephronophthisis 4".

Further reading




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