RPGR, Polyclonal Antibody

X-linked retinitis pigmentosa GTPase regulator; RPGR; RP3; XLRP3

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit Ig

Rabbit

This RPGR antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 744-772 amino acids from the C-terminal region of human RPGR.

Peptide Affinity Purified Rabbit Polyclonal Antibody (Pab)

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.

Vial Concentration: 0.5 (lot specific)

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

Small volumes of anti-RPGR antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Neuroscience

Western Blot (WB), ELISA (EIA), Immunohistochemistry (IHC)

WB~~1:1000

RPGR Antibody (C-term) western blot analysis in A549 cell line lysates (35ug/lane).This demonstrates the RPGR antibody detected the RPGR protein (arrow).

RPGR Antibody (C-term) immunohistochemistry analysis in formalin fixed and paraffin embedded human liver tissue followed by peroxidase conjugation of the secondary antibody and DAB staining.This data demonstrates the use of RPGR Antibody (C-term) for immunohistochemistry. Clinical relevance has not been evaluated.

113387

retinitis pigmentosa GTPase regulator

X-linked retinitis pigmentosa GTPase regulator

X-linked retinitis pigmentosa GTPase regulator

RP3; XLRP3  [Similar Products]

RPGR_HUMAN

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. [provided by RefSeq, Dec 2008]

RPGR: a guanine nucleotide exchange factor (GEF) that plays a role in cilia biogenesis and maintenance. Interacts with the GDP-bound form of the small GTPase RAB8A. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. 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 May be involved in microtubule organization and regulation of transport in primary cilia. Interacts with PDE6D, RPGRIP1, CEP290, and DFNB31. Defects in RPGR are the cause of retinitis pigmentosa (RP3, RP15, and RPDSI), cone-rod dystrophy, X-linked 1 (CORDX1), and macular degeneration, X-linked, atrophic (MDXLA). Six isoforms of the human protein are produced by alternative splicing. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segments. Isoform 6 associates with microtubule organizing centers, cilium basal bodies, and cilium axonemes. Interacts with NPM1 (via C-terminus), RPGRIP1L, SMC1A and SMC3.

Protein type: GEFs; GEFs, Rab

Chromosomal Location of Human Ortholog: Xp21.1

Cellular Component: Golgi apparatus; centrosome; photoreceptor outer segment

Molecular Function: protein binding; guanyl-nucleotide exchange factor activity

Biological Process: intracellular protein transport; eye photoreceptor cell development; visual perception; response to stimulus; intraflagellar transport; cilium biogenesis; positive regulation of GTPase activity

Disease: Retinitis Pigmentosa, X-linked, And Sinorespiratory Infections, With Or Without Deafness; Cone-rod Dystrophy, X-linked, 1; Macular Degeneration, X-linked Atrophic; Retinitis Pigmentosa 3

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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