RP2 (gene)

Retinitis pigmentosa 2 (X-linked recessive), also known as RP2, is a human gene.cite web | title = Entrez Gene: RP2 retinitis pigmentosa 2 (X-linked recessive)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6102| accessdate = ]

PBB_Summary
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summary_text = The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell deathcite web | title = Entrez Gene: RP2 retinitis pigmentosa 2 (X-linked recessive)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6102| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Clayton JF, Wright AF, Jay M, "et al." |title=Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation. |journal=Hum. Genet. |volume=74 |issue= 2 |pages= 168–71 |year= 1986 |pmid= 2876947 |doi=
*cite journal | author=Bhattacharya SS, Wright AF, Clayton JF, "et al." |title=Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. |journal=Nature |volume=309 |issue= 5965 |pages= 253–5 |year= 1984 |pmid= 6325945 |doi=
*cite journal | author=Thiselton DL, Hampson RM, Nayudu M, "et al." |title=Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping. |journal=Genome Res. |volume=6 |issue= 11 |pages= 1093–102 |year= 1997 |pmid= 8938433 |doi=
*cite journal | author=Schwahn U, Lenzner S, Dong J, "et al." |title=Positional cloning of the gene for X-linked retinitis pigmentosa 2. |journal=Nat. Genet. |volume=19 |issue= 4 |pages= 327–32 |year= 1998 |pmid= 9697692 |doi= 10.1038/1214
*cite journal | author=Mears AJ, Gieser L, Yan D, "et al." |title=Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. |journal=Am. J. Hum. Genet. |volume=64 |issue= 3 |pages= 897–900 |year= 1999 |pmid= 10053026 |doi=
*cite journal | author=Hardcastle AJ, Thiselton DL, Van Maldergem L, "et al." |title=Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. |journal=Am. J. Hum. Genet. |volume=64 |issue= 4 |pages= 1210–5 |year= 2000 |pmid= 10090907 |doi=
*cite journal | author=Rosenberg T, Schwahn U, Feil S, Berger W |title=Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). |journal=Ophthalmic Genet. |volume=20 |issue= 3 |pages= 161–72 |year= 1999 |pmid= 10520237 |doi=
*cite journal | author=Wada Y, Nakazawa M, Abe T, Tamai M |title=A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. |journal=Invest. Ophthalmol. Vis. Sci. |volume=41 |issue= 1 |pages= 290–3 |year= 2000 |pmid= 10634633 |doi=
*cite journal | author=Thiselton DL, Zito I, Plant C, "et al." |title=Novel frameshift mutations in the RP2 gene and polymorphic variants. |journal=Hum. Mutat. |volume=15 |issue= 6 |pages= 580 |year= 2000 |pmid= 10862093 |doi= 10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3 |doilabel=10.1002/1098-1004(200006)15:6580::AID-HUMU153.0.CO;2-3
*cite journal | author=Sharon D, Bruns GA, McGee TL, "et al." |title=X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. |journal=Invest. Ophthalmol. Vis. Sci. |volume=41 |issue= 9 |pages= 2712–21 |year= 2000 |pmid= 10937588 |doi=
*cite journal | author=Chapple JP, Hardcastle AJ, Grayson C, "et al." |title=Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. |journal=Hum. Mol. Genet. |volume=9 |issue= 13 |pages= 1919–26 |year= 2000 |pmid= 10942419 |doi=
*cite journal | author=Miano MG, Testa F, Filippini F, "et al." |title=Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. |journal=Hum. Mutat. |volume=18 |issue= 2 |pages= 109–19 |year= 2001 |pmid= 11462235 |doi= 10.1002/humu.1160
*cite journal | author=Liu L, Wei Y, Chen H |title= [Identification of a nonsense mutation causing X-linked RP2 in two Chinese families] |journal=Zhonghua Yi Xue Za Zhi |volume=81 |issue= 2 |pages= 71–2 |year= 2002 |pmid= 11798852 |doi=
*cite journal | author=Bartolini F, Bhamidipati A, Thomas S, "et al." |title=Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. |journal=J. Biol. Chem. |volume=277 |issue= 17 |pages= 14629–34 |year= 2002 |pmid= 11847227 |doi= 10.1074/jbc.M200128200
*cite journal | author=Breuer DK, Yashar BM, Filippova E, "et al." |title=A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. |journal=Am. J. Hum. Genet. |volume=70 |issue= 6 |pages= 1545–54 |year= 2002 |pmid= 11992260 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Bader I, Brandau O, Achatz H, "et al." |title=X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. |journal=Invest. Ophthalmol. Vis. Sci. |volume=44 |issue= 4 |pages= 1458–63 |year= 2003 |pmid= 12657579 |doi=
*cite journal | author=Sharon D, Sandberg MA, Rabe VW, "et al." |title=RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. |journal=Am. J. Hum. Genet. |volume=73 |issue= 5 |pages= 1131–46 |year= 2004 |pmid= 14564670 |doi=
*cite journal | author=Andréasson S, Breuer DK, Eksandh L, "et al." |title=Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes. |journal=Ophthalmic Genet. |volume=24 |issue= 4 |pages= 215–23 |year= 2004 |pmid= 14566651 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504

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