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Peripherin 2 (PRPH2)

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PRPH; AOFMD; AVMD; RDS; RP7; TSPAN22; Rd2; Retinal degeneration slow protein; Retinitis Pigmentosa 7; Tetraspanin 22; Photoreceptor outer segment membrane glycoprotein 1

Peripherin 2 (PRPH2)
CCC C747
HGNC 9942
MGI 102791
PubMed 20213611
RGD 3549
UniProt P23942
Wiki Peripherin_2
Peripherin 2is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It is located in the rim regions of the flattened disks that contain rhodopsin, which is the protein that is responsible for initiation of visual phototransduction upon reception of light. Peripherin 2 may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Peripherin 2 (PRPH2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Peripherin 2 (PRPH2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Peripherin 2 (PRPH2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Peripherin 2 (PRPH2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Peripherin 2 (PRPH2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Peripherin 2 (PRPH2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Peripherin 2 (PRPH2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Peripherin 2 (PRPH2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Peripherin 2 (PRPH2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Peripherin 2 (PRPH2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Peripherin 2 (PRPH2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Peripherin 2 (PRPH2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Peripherin 2 (PRPH2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Peripherin 2 (PRPH2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Peripherin 2 (PRPH2) ELISA Kit Customized Service Offer
  1. "The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA."Genomics 10:733-739(1991) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and analysis of human chromosome 6." Nature 425:805-811(2003) [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. "Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration."Hum. Mutat. 8:297-303(1996) [PubMed] [Europe PMC] [Abstract]
  5. "A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa."Nature 354:478-480(1991) [PubMed] [Europe PMC] [Abstract]
  6. "Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa."Nature 354:480-483(1991) [PubMed] [Europe PMC] [Abstract]
  7. "Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree."Genomics 14:805-807(1992) [PubMed] [Europe PMC] [Abstract]
  8. ErratumGenomics 15:466-466(1993) [PubMed] [Europe PMC] [Abstract]
  9. "Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene."Nat. Genet. 3:202-207(1993) [PubMed] [Europe PMC] [Abstract]
  10. "Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy."Nat. Genet. 3:213-218(1993) [PubMed] [Europe PMC] [Abstract]
  11. "Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg)."Am. J. Ophthalmol. 118:259-260(1994) [PubMed] [Europe PMC] [Abstract]
  12. "A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP."Genomics 20:137-139(1994) [PubMed] [Europe PMC] [Abstract]
  13. "A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy."Ophthalmic Genet. 16:39-44(1995) [PubMed] [Europe PMC] [Abstract]
  14. ErratumOphthalmic Genet. 16:179-179(1995)
  15. "A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration."Ophthalmology 102:246-255(1995) [PubMed] [Europe PMC] [Abstract]
  16. "Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene."Hum. Mutat. 10:301-309(1997) [PubMed] [Europe PMC] [Abstract]
  17. "Founder effect, seen in the British population, of the 172 peripherin/RDS mutation- and further refinement of genetic positioning of the peripherin/RDS gene."Am. J. Hum. Genet. 62:192-195(1998) [PubMed] [Europe PMC] [Abstract]
  18. "P313L: a novel amino acid substitution within the C-terminal domain of the human RDS/peripherin gene."Hum. Mutat. 11:415-416(1998)
  19. "Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations."Hum. Mutat. 12:70-70(1998) [PubMed] [Europe PMC] [Abstract]
  20. "A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene."Arch. Ophthalmol. 121:1452-1457(2003) [PubMed] [Europe PMC] [Abstract]
  21. "A novel mutation in the RDS gene in an Italian family with pattern dystrophy."Br. J. Ophthalmol. 89:1066-1068(2005) [PubMed] [Europe PMC] [Abstract]
  22. "Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene."Arch. Ophthalmol. 124:1020-1027(2006) [PubMed] [Europe PMC] [Abstract]
  23. "High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population."Mol. Vis. 13:1031-1037(2007) [PubMed] [Europe PMC] [Abstract]
  24. "Next-generation genetic testing for retinitis pigmentosa." Hum. Mutat. 33:963-972(2012) [PubMed] [Europe PMC] [Abstract]