RPGR Antibody (C-term) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Primary Accession | Q92834 |
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Clone Names | 100311165 |
Gene ID | 6103 |
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Other Names | X-linked retinitis pigmentosa GTPase regulator, RPGR, RP3, XLRP3 |
Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
Name | RPGR |
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Synonyms | RP3, XLRP3 |
Function | Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia. |
Cellular Location | Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:Q9R0X5}. Golgi apparatus. Cell projection, cilium {ECO:0000250|UniProtKB:Q9R0X5}. Note=In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). Colocalizes with WHRN in the photoreceptor connecting cilium (By similarity) Colocalizes with CEP290 in the photoreceptor connecting cilium (By similarity). Colocalizes with RPGRIP1 in the photoreceptor connecting cilium (By similarity). {ECO:0000250|UniProtKB:Q9R0X5} |
Tissue Location | Heart, brain, placenta, lung, liver, muscle, kidney, retina, pancreas and fetal retinal pigment epithelium. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segments |
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Background
This gene encodes a protein with a series of six RCC1-likedomains (RLDs), characteristic of the highly conserved guaninenucleotide exchange factors. The encoded protein is found in theGolgi body and interacts with RPGRIP1. This protein localizes tothe outer segment of rod photoreceptors and is essential for theirviability. Mutations in this gene have been associated withX-linked retinitis pigmentosa (XLRP). Multiple alternativelyspliced transcript variants that encode different isoforms of thisgene have been reported, but the full-length natures of only somehave been determined.
References
Clark, G.R., et al. Ophthalmology 117(11):2169-2177(2010)Schmid, F., et al. Invest. Ophthalmol. Vis. Sci. 51(3):1628-1635(2010)Ji, Y., et al. Curr. Eye Res. 35(1):73-79(2010)Sheng, X., et al. Mol. Vis. 16, 1620-1628 (2010) :Murga-Zamalloa, C.A., et al. J. Genet. 88(4):399-407(2009)
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