Peripherin 2 (Retinal Degeneration, Slow) (PRPH2) ELISA Kits

The protein encoded by PRPH2 is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Additionally we are shipping Peripherin 2 (Retinal Degeneration, Slow) Antibodies (25) and Peripherin 2 (Retinal Degeneration, Slow) Proteins (6) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Mouse PRPH2 PRPH2 19133 P15499
Anti-Rat PRPH2 PRPH2 25534 P17438
Anti-Human PRPH2 PRPH2 5961 P23942
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More ELISA Kits for Peripherin 2 (Retinal Degeneration, Slow) Interaction Partners

Mouse (Murine) Peripherin 2 (Retinal Degeneration, Slow) (PRPH2) interaction partners

  1. quantitative FRET analysis in acutely isolated cone OS revealed that the cone degeneration-causing V268I mutation in peripherin-2 selectively reduced binding to M-opsin without affecting the peripherin-2 interaction to S-opsin (show OPN1SW ELISA Kits) or rhodopsin (show RHO ELISA Kits)

  2. These results support the idea that mutations may differentially affect Prph2's role as a structural component, and its role as a functional protein key for organizing membrane domains for cellular signalling. These roles may be different in rods and cones, thus contributing to the phenotypic heterogeneity that characterizes diseases associated with Prph2 mutations.

  3. Eliminating Cngb1 and reducing RDS leads to additive defects in RDS expression levels and rod electroretinogram (ERG) function, (e.g., Cngb1-/-/rds+/- versus rds+/- or Cngb1-/-) but not to additive defects in rod ultrastructure.

  4. In the group of mice manifesting homozygous mutation in the PRPH2 gene.

  5. Our data suggest that upregulation of PRPH2 levels in combination with defects in the PRPH2 function caused by the mutation might be an important mechanism leading to cone degeneration.

  6. These data suggest that glycosylation of RDS is required for RDS function or stability in cones, a difference that may be due to extracellular versus intradiscal localization of the RDS glycan in cones versus rods.

  7. Peripherin-2 links CNGB1 to the light-detector rhodopsin (show RHO ELISA Kits) in outer segments of rod photoreceptors.

  8. Expression of R172W mutation in cones induced subtle alterations in RDS/ROM-1 (show ROM1 ELISA Kits) complex assembly, specifically resulting in the formation of abnormal, large molecular weight ROM-1 (show ROM1 ELISA Kits) complexes. Fundus imaging demonstrated that R172W mice developed macular degeneration.

  9. Correcting the levels of RDS gene expression does not improve the phenotype of the rd7 (show NR2E3 ELISA Kits) model of enhanced S-cone syndrome.

  10. Structural characterization of the mechanism of RDS complex formation and the disease process underlying RDS-associated retinal degeneration.

Human Peripherin 2 (Retinal Degeneration, Slow) (PRPH2) interaction partners

  1. These results support the idea that mutations may differentially affect Prph2's role as a structural component, and its role as a functional protein key for organizing membrane domains for cellular signalling. These roles may be different in rods and cones, thus contributing to the phenotypic heterogeneity that characterizes diseases associated with Prph2 mutations.

  2. there are phenotypic variabilities of late-onset or nonpenetrance in individuals who carried the R172W mutation of the PRPH2 gene. The phenotypes ranged from severe cone-rod dystrophy to asymptomatic individuals with normal retinal function

  3. This review reveled that The PRPH2/RDS protein is a critical component for normal vision through its role as a structural protein important for the proper formation of both rod and cone photoreceptor cells.

  4. Of the 225 genetic tests performed, 150 were for recessive IRD (show SCRIB ELISA Kits), and 75 were for dominant IRD (show SCRIB ELISA Kits). A positive molecular diagnosis was made in 70 (59%) of probands with recessive IRD (show SCRIB ELISA Kits) and 19 (26%) probands with dominant IRD (show SCRIB ELISA Kits). Thirty-two novel variants were identified; among these, 17 sequence changes in four genes were predicted to be possibly or probably damaging including: ABCA4 (show ABCA4 ELISA Kits) (14), BEST1 (show BEST1 ELISA Kits) (2), PRPH2 (1), and TIMP3 (show TIMP3 ELISA Kits)

  5. In the control group, four different genetic variations were detected in ELOVL4, and five in PRPH2. STGD (show ABCA4 ELISA Kits) patients of different ethnicities may carry distinct ELOVL4 and PRPH2 sequence variants. We believe that the genetic variations identified in this study may be related to STGD (show ABCA4 ELISA Kits) etiopathogenesis.

  6. The PRPH2 c.828+3A>T mutation results in multiple distinct phenotypes likely modified by protein haplotypes in trans.

  7. Bi-allelic PRPH2 mutations cause a distinct Leber congenital amaurosis phenotype in infancy; affected adults have prominent maculopathy.

  8. Our data suggest that upregulation of PRPH2 levels in combination with defects in the PRPH2 function caused by the mutation might be an important mechanism leading to cone degeneration

  9. Studies indicate that mutations in the photoreceptor specific gene retina degeneration slow (RDS; peripherin-2) lead to a variety of retinal degenerative diseases.

  10. reason for high qAF among many PRPH2/RDS-positive patients is not known; higher RPE lipofuscin accumulation may be a primary or secondary effect of the PRPH2/RDS mutation

Cow (Bovine) Peripherin 2 (Retinal Degeneration, Slow) (PRPH2) interaction partners

  1. significantly strengthens the evidence that peripherin-2/rds functions directly to shape the high-curvature rim (show RBBP8 ELISA Kits) domains of the outer segment disk; that the protein's C terminus may modulate membrane curvature-generating activity present in other protein domains

  2. the C terminus of peripherin (show PRPH ELISA Kits)/rds has roles in targeting and maintaining ROS (show ROS1 ELISA Kits) structure and is potentially involved in retinal degenerations

Peripherin 2 (Retinal Degeneration, Slow) (PRPH2) Antigen Profile

Antigen Summary

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It 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.

Gene names and symbols associated with PRPH2

  • peripherin 2 (Prph2) antibody
  • peripherin 2 (retinal degeneration, slow) (PRPH2) antibody
  • rds/peripherin (prph2) antibody
  • AOFMD antibody
  • AVMD antibody
  • CACD2 antibody
  • CRDS1 antibody
  • DS antibody
  • Nmf193 antibody
  • PRPH antibody
  • prph-2 antibody
  • prph2b antibody
  • Rd-2 antibody
  • rd2 antibody
  • RDS antibody
  • rds38 antibody
  • RP7 antibody
  • RSRDS antibody
  • TSPAN22 antibody

Protein level used designations for PRPH2

peripherin-2 , retinal degeneration 2 , retinal degeneration slow protein , retinal degeneration, slow (retinitis pigmentosa 7) , retinal degeneration, slow , peripherin 2, homolog of mouse , peripherin, photoreceptor type , retinal peripherin , tetraspanin-22 , tspan-22 , retinitis pigmentosa 7 , photoreceptor outer segment membrane glycoprotein 1 , peripherin protein , rds gene for peripherin , peripherin 2 (retinal degeneration, slow) b , xRDS38

GENE ID SPECIES
19133 Mus musculus
25534 Rattus norvegicus
5961 Homo sapiens
280907 Bos taurus
727697 Felis catus
395899 Gallus gallus
403972 Canis lupus familiaris
398002 Xenopus laevis
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