NPHP4: Difference between revisions

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'''Nephrocystin-4''' is a [[protein]] that in humans is encoded by the ''NPHP4'' [[gene]].<ref name="pmid11920287">{{cite journal | vauthors = 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 | title = Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36 | journal = Am J Hum Genet | volume = 70 | issue = 5 | pages = 1240–6 |date=Apr 2002 | pmid = 11920287 | pmc = 447598 | doi = 10.1086/340317 }}</ref><ref name="pmid12205563">{{cite journal | vauthors = 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 | title = A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution | journal = Am J Hum Genet | volume = 71 | issue = 5 | pages = 1161–7 |date=Oct 2002 | pmid = 12205563 | pmc = 385091 | doi = 10.1086/344395 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NPHP4 nephronophthisis 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=261734| accessdate = }}</ref>

| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: NPHP4 nephronophthisis 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=261734| accessdate = }}</ref>

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| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: NPHP4 nephronophthisis 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=261734| accessdate = }}</ref>

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==References==