Key features and details
- Rabbit polyclonal to RPGR - N-terminal
- Suitable for: IHC-P, WB
- Reacts with: Mouse, Rat, Human
- Isotype: IgG
Product nameAnti-RPGR antibody - N-terminal
See all RPGR primary antibodies
DescriptionRabbit polyclonal to RPGR - N-terminal
Tested applicationsSuitable for: IHC-P, WBmore details
Species reactivityReacts with: Mouse, Rat, Human
Recombinant fragment corresponding to Human RPGR aa 1-260 (N terminal).
MREPEELMPD SGAVFTFGKS KFAENNPGKF WFKNDVPVHL SCGDEHSAVV TGNNKLYMFG SNNWGQLGLG SKSAISKPTC VKALKPEKVK LAACGRNHTL VSTEGGNVYA TGGNNEGQLG LGDTEERNTF HVISFFTSEH KIKQLSAGSN TSAALTEDGR LFMWGDNSEG QIGLKNVSNV CVPQQVTIGK PVSWISCGYY HSAFVTTDGE LYVFGEPENG KLGLPNQLLG NHRTPQLVSE IPEKVIQVAC GGEHTVVLTE
Database link: Q92834
- Y79 and Mouse heart lysate.
Storage instructionsShipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term. Avoid freeze / thaw cycle.
Storage bufferpH: 7.30
Preservative: 0.02% Sodium azide
Constituents: 50% Glycerol, 49% PBS
Concentration information loading...
PurityProtein A purified
Our Abpromise guarantee covers the use of ab180729 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|IHC-P||1/50 - 1/200.
ab171870 - Rabbit polyclonal IgG, is suitable for use as an isotype control with this antibody.
|WB||1/500 - 1/2000. Predicted molecular weight: 113 kDa.|
FunctionCould be a guanine-nucleotide releasing factor.
Tissue specificityHeart, 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.
Involvement in diseaseDefects in RPGR are the cause of retinitis pigmentosa type 3 (RP3) [MIM:300029]; also known as X-linked retinitis pigmentosa 3 (XLRP-3) or retinitis pigmentosa type 15 (RP15). A X-linked retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal degeneration which is distinguished from other types by the absence of visual defects in the presence of a brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like retinal reflex.
Defects in RPGR are the cause of retinitis pigmentosa with deafness and sinorespiratory infections (RPDSI) [MIM:300455]. RPDSI is characterized by the association of primary ciliary dyskinesia and Usher syndrome features. The phenotype has similarities with primary ciliary dyskinesia and Usher syndrome.
Defects in RPGR are the cause of cone-rod dystrophy X-linked type 1 (CORDX1) [MIM:304020]; also known as cone dystrophy 1 (CO1). CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. In CORDX1 the degree of rod-photoreceptor involvement can be variable, with degeneration increasing as the disease progresses. Affected individuals (essentially all of whom are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset and severity of symptoms.
Defects in RPGR are a cause of macular degeneration X-linked atrophic (MDXLA) [MIM:300834]. MDXLA is an ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration.
Sequence similaritiesContains 6 RCC1 repeats.
Cellular localizationGolgi apparatus.
- Information by UniProt
- COD1 antibody
- Cone Dystrophy 1 (X-Linked) antibody
- CORDX1 antibody
Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections) analysis of mouse kidney tissue labelling RPGR with ab180729 at 1/100. Magnification: 200x.
All lanes : Anti-RPGR antibody - N-terminal (ab180729) at 1/500 dilution
Lane 1 : Y79 lysate
Lane 2 : Mouse heart lysate
Predicted band size: 113 kDa
ab180729 has not yet been referenced specifically in any publications.