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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 25 products:
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.
Structural characterization of the mechanism of RDS complex formation and the disease process underlying RDS-associated retinal degeneration.
Oligomerization incompetent retinal degeneration slow is associated with mislocalization of cone opsins and cone transducin (show GNAT1 Antibodies).
These results suggest that while normal outer segment structure and function require RDS oligomerization, some RDS function is retained in the absence of C150.
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.
reason for high qAF among many PRPH2/RDS-positive patients is not known; higher RPE (show RPE Antibodies) lipofuscin accumulation may be a primary or secondary effect of the PRPH2/RDS mutation
The PRPH2 c.828+3A>T splice site mutation is a frequent cause of inherited retinal dystrophies and is owing to the founder effect.
The mutations in PRPH2 account for 10.3% of adRP (show PLIN2 Antibodies) in the French population, which is higher than previously reported (0%-8%) This makes PRPH2 the second most frequent adRP (show PLIN2 Antibodies) gene after RHO in our series.
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