RPGR Antibody (C-term)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application
| IHC-P, WB, E |
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Primary Accession | Q92834 |
Other Accession | NP_000319.1 |
Reactivity | Human |
Host | Rabbit |
Clonality | Polyclonal |
Isotype | Rabbit IgG |
Calculated MW | 113387 Da |
Antigen Region | 744-772 aa |
Gene ID | 6103 |
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Other Names | X-linked retinitis pigmentosa GTPase regulator, RPGR, RP3, XLRP3 |
Target/Specificity | This RPGR antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 744-772 amino acids of human RPGR. |
Dilution | WB~~1:1000 IHC-P~~1:10~50 |
Format | Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification. |
Storage | Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
Precautions | RPGR Antibody (C-term) is for research use only and 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-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.
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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