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RPGR encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. Additionally we are shipping RPGR Antibodies (34) and RPGR Kits (3) and many more products for this protein.
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Together with a physical interaction between RPGR and the C-terminal domain of CEP290, our data suggest that RPGR and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies.
Studies indicate taht the majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR) or retinitis pigmentosa 2 protein (RP2 (show NUDT19 Proteins)) genes.
We also correlated the features observed in patients with those of three Rpgr-mutant (Rpgr-ko, Rd9 (show PITPNM1 Proteins), and Rpgr-cko) mice. In patients, there was pronounced macular disease
Three mutations were identified in the ORF15 exon of RPGR. No RP2 (show NUDT19 Proteins) mutations were found among the examined families. Mutation screening of RP patients is essential to understand the mechanism behind this disease and develop treatments
Profound visual loss occurred by the second decade of life with progression to near no light perception by age 60 in this kindred of X-linked RP associated with the RPGR genotype.
The regulator of chromosome condensation 1 (show RCC1 Proteins)-like (show RCBTB2 Proteins) domain of RPGR was conserved in vertebrates and invertebrates, but RPGR(ORF15) was unique to vertebrates.
Coverage-based analysis indicated that the RPGR open reading frame (ORF)15 was located in an uncovered or low-depth region. Through additional screening of ORF15, we identified pathogenic mutations in 14% (7/50) of patients.
X-linked retinitis pigmentosa caused by mutations in the RPGR gene is a severe and early onset form of retinal degeneration. [review]
Severe retinal degeneration is found in a Czech family women with a c.2543del mutation in ORF15 of the RPGR gene.
RPGR mutations associated with X-linked retinitis pigmentosa.
The discordant effect of the loss of RPGR on rod-dominant or cone-only rodent retinas is shown.
study uncovers the pathogenic mechanism whereby absence of RPGR(ORF15) glutamylation leads to retinal pathology in patients with TTLL5 gene mutations and connects these two genes into a common disease pathway.
Given a frequent occurrence of RPGR mutations in severe photoreceptor degeneration due to ciliary disorders, our results provide insights into pathways resulting in altered mature cilia function in ciliopathies.
Data shsow that Rpgr ORF15 transcripts, but not protein, were detected in retinas from Rd9 (show PITPNM1 Proteins)/Y male mice that exhibited retinal pathology.
Misexpression of Rpgr(ex1 (show FRMD6 Proteins)-19) causes retinal degeneration that is considerably more severe than that caused by Rpgr knockout but photoreceptors tolerate overexpression of Rpgr(ORF15) without evidence of degeneration.
RPGR localizes to the podocytes in the glomerulus as well as to primary cilia in parietal epithelium and tubules
RPGR and RPGRIP (show RPGRIP1 Proteins) isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors.
Certain truncated forms of RPGR can behave as a dominant, gain-of-function mutant.
This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined.
X-linked retinitis pigmentosa GTPase regulator
, retinitis pigmentosa GTPase regulator
, RPGR 1-19 isoform
, X-linked retinitis pigmentosa GTPase regulator-like
, retinitis pigmentosa 15
, retinitis pigmentosa 3 GTPase regulator
, retinitis pigmentosa GTP-ase regulator RPGR