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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) Proteins (6) and many more products for this protein.
Showing 10 out of 24 products:
ablation of Rom1 (show ROM1 Antibodies) results in the conversion of an MD/PD phenotype characterized by cone functional defects and the formation of abnormal Prph2/Rom1 (show ROM1 Antibodies) complexes to an RP phenotype characterized by rod-dominant functional defects and reductions in total Prph2 protein. Thus one method by which ROM1 (show ROM1 Antibodies) may act as a disease modifier is by contributing to the large variability in PRPH2-associated disease phenotype
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 Antibodies) or rhodopsin (show RHO Antibodies)
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.
Eliminating Cngb1 (show CNGB1 Antibodies) and reducing RDS leads to additive defects in RDS expression levels and rod electroretinogram (ERG (show ERG Antibodies)) function, (e.g., Cngb1 (show CNGB1 Antibodies)-/-/rds+/- versus rds+/- or Cngb1 (show CNGB1 Antibodies)-/-) but not to additive defects in rod ultrastructure.
In the group of mice manifesting homozygous mutation in the PRPH2 gene.
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.
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.
Peripherin-2 links CNGB1 (show CNGB1 Antibodies) to the light-detector rhodopsin (show RHO Antibodies) in outer segments of rod photoreceptors.
Expression of R172W mutation in cones induced subtle alterations in RDS/ROM-1 (show ROM1 Antibodies) complex assembly, specifically resulting in the formation of abnormal, large molecular weight ROM-1 (show ROM1 Antibodies) complexes. Fundus imaging demonstrated that R172W mice developed macular degeneration.
Correcting the levels of RDS gene expression does not improve the phenotype of the rd7 (show NR2E3 Antibodies) model of enhanced S-cone syndrome.
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
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.
Of the 225 genetic tests performed, 150 were for recessive IRD (show SCRIB Antibodies), and 75 were for dominant IRD (show SCRIB Antibodies). A positive molecular diagnosis was made in 70 (59%) of probands with recessive IRD (show SCRIB Antibodies) and 19 (26%) probands with dominant IRD (show SCRIB Antibodies). 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 Antibodies) (14), BEST1 (show BEST1 Antibodies) (2), PRPH2 (1), and TIMP3 (show TIMP3 Antibodies)
In the control group, four different genetic variations were detected in ELOVL4 (show ELOVL4 Antibodies), and five in PRPH2. STGD (show ABCA4 Antibodies) patients of different ethnicities may carry distinct ELOVL4 (show ELOVL4 Antibodies) and PRPH2 sequence variants. We believe that the genetic variations identified in this study may be related to STGD (show ABCA4 Antibodies) etiopathogenesis.
The PRPH2 c.828+3A>T mutation results in multiple distinct phenotypes likely modified by protein haplotypes in trans.
Bi-allelic PRPH2 mutations cause a distinct Leber congenital amaurosis phenotype in infancy; affected adults have prominent maculopathy.
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
Studies indicate that mutations in the photoreceptor specific gene retina degeneration slow (RDS; peripherin-2) lead to a variety of retinal degenerative diseases.
significantly strengthens the evidence that peripherin-2/rds functions directly to shape the high-curvature rim (show RBBP8 Antibodies) domains of the outer segment disk; that the protein's C terminus may modulate membrane curvature-generating activity present in other protein domains
the C terminus of peripherin (show PRPH Antibodies)/rds has roles in targeting and maintaining ROS (show ROS1 Antibodies) structure and is potentially involved in retinal degenerations
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.
, 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
, retinitis pigmentosa 7
, photoreceptor outer segment membrane glycoprotein 1
, peripherin protein
, rds gene for peripherin
, peripherin 2 (retinal degeneration, slow) b