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Retinitis Pigmentosa 2, X-Linked Recessive (RP2)

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TBCCD2; XRP2; NME10

Retinitis Pigmentosa 2, X-Linked Recessive (RP2)
CCC F778
HGNC 10274
MGI 1277953
RGD 1565124
UniProt O75695
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 death.The predicted gene product showed homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Northern blot hybridization with the cDNA revealed a 4-kb transcript in all fetal and adult tissues examined. RT-PCR showed expression in adult human retina using nested primers flanking the translation start and stop codons, respectively, which amplified a fragment of 1.2 kb.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Retinitis Pigmentosa 2, X-Linked Recessive (RP2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Retinitis Pigmentosa 2, X-Linked Recessive (RP2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinitis Pigmentosa 2, X-Linked Recessive (RP2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinitis Pigmentosa 2, X-Linked Recessive (RP2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinitis Pigmentosa 2, X-Linked Recessive (RP2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Retinitis Pigmentosa 2, X-Linked Recessive (RP2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Retinitis Pigmentosa 2, X-Linked Recessive (RP2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinitis Pigmentosa 2, X-Linked Recessive (RP2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinitis Pigmentosa 2, X-Linked Recessive (RP2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinitis Pigmentosa 2, X-Linked Recessive (RP2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Retinitis Pigmentosa 2, X-Linked Recessive (RP2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Retinitis Pigmentosa 2, X-Linked Recessive (RP2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Retinitis Pigmentosa 2, X-Linked Recessive (RP2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Retinitis Pigmentosa 2, X-Linked Recessive (RP2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Retinitis Pigmentosa 2, X-Linked Recessive (RP2) ELISA Kit Customized Service Offer
  1. "Positional cloning of the gene for X-linked retinitis pigmentosa 2."Nat. Genet. 19:327-332(1998) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  5. "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."Hum. Mol. Genet. 9:1919-1926(2000) [PubMed] [Europe PMC] [Abstract]
  6. "Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C."J. Biol. Chem. 277:14629-14634(2002) [PubMed] [Europe PMC] [Abstract]
  7. "Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3."Hum. Mol. Genet. 11:3065-3074(2002) [PubMed] [Europe PMC] [Abstract]
  8. "Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex."FEBS Lett. 582:2501-2507(2008) [PubMed] [Europe PMC] [Abstract]
  9. "The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium."Hum. Mol. Genet. 19:1358-1367(2010) [PubMed] [Europe PMC] [Abstract]
  10. "An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium."Genes Dev. 25:2347-2360(2011) [PubMed] [Europe PMC] [Abstract]
  11. "Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3."Structure 14:367-378(2006) [PubMed] [Europe PMC] [Abstract]
  12. "The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3."Nat. Struct. Mol. Biol. 15:373-380(2008) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations in the RP2 gene cause disease in 10% of families with familial X-Linked retinitis pigmentosa assessed in this study."Am. J. Hum. Genet. 64:1210-1215(1999) [PubMed] [Europe PMC] [Abstract]
  14. "Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2)."Ophthalmic Genet. 20:161-172(1999) [PubMed] [Europe PMC] [Abstract]
  15. "Novel frameshift mutations in the RP2 gene and polymorphic variants."Hum. Mutat. 15:580-580(2000) [PubMed] [Europe PMC] [Abstract]
  16. "A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa."Invest. Ophthalmol. Vis. Sci. 41:290-293(2000) [PubMed] [Europe PMC] [Abstract]
  17. "X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function."Invest. Ophthalmol. Vis. Sci. 41:2712-2721(2000) [PubMed] [Europe PMC] [Abstract]
  18. "Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains."Hum. Mutat. 18:109-119(2001) [PubMed] [Europe PMC] [Abstract]
  19. "A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa." Am. J. Hum. Genet. 70:1545-1554(2002) [PubMed] [Europe PMC] [Abstract]
  20. "RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa."Am. J. Hum. Genet. 73:1131-1146(2003) [PubMed] [Europe PMC] [Abstract]
  21. "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."Invest. Ophthalmol. Vis. Sci. 44:1458-1463(2003) [PubMed] [Europe PMC] [Abstract]
  22. "Next-generation genetic testing for retinitis pigmentosa." Hum. Mutat. 33:963-972(2012) [PubMed] [Europe PMC] [Abstract]