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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. Zusätzlich bieten wir Ihnen Retinitis Pigmentosa GTPase Regulator Kits (3) und Retinitis Pigmentosa GTPase Regulator Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.
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Human Polyclonal RPGR Primary Antibody für EIA, WB - ABIN954582
Schmid, Glaus, Cremers, Kloeckener-Gruissem, Berger, Neidhardt: Mutation- and tissue-specific alterations of RPGR transcripts. in Investigative ophthalmology & visual science 2010
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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 (zeige RCC1 Antikörper)-like (zeige RCBTB2 Antikörper) 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.
We will summarize the functional characterization of RPGR and highlight recent studies in animal models, which will not only shed light on the disease mechanisms in X linked retinitis pigmentosa but will also provide therapeutic strategies for treatment.
A novel RPGR gene was found in a retinal dystrophy (zeige MERTK Antikörper) patient in a family with Stargardt disease.
RPGR is acting as a scaffold protein recruiting cargo-loaded PDE6D and Arl3 to release lipidated cargo into cilia.
Mutations in RPGR were found in two patients and relatives with primary ciliary dyskinesia and retinitis pigmentosa. Reduced ciliary orientation and coordination of ciliary bundles suggest RPGR may play a role in respiratory cilia orientation.
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 (zeige PITPNM1 Antikörper)/Y male mice that exhibited retinal pathology.
Misexpression of Rpgr(ex1 (zeige FRMD6 Antikörper)-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 (zeige RPGRIP1 Antikörper) 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.
a CEP290/NPHP6 (zeige CEP290 Antikörper) mutation perturbs its interaction with RPGR and results in early-onset retinal degeneration
This complexity of defects in flagellar assembly suggests a role of RPGR in intraflagellar transport processes.
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