Overview

  • Product name

  • Description

    Rabbit polyclonal to RPGR
  • Host species

    Rabbit
  • Tested applications

    Suitable for: ICC/IFmore details
  • Species reactivity

    Reacts with: Human
  • Immunogen

    Recombinant fragment corresponding to Human RPGR aa 670-765.
    Sequence:

    PFFGNLPDRGMNTESEENKDFVKKRESCKQDVIFDSERESVEKPDSYMEG ASESQQGIADGFQQPEAIEFSSGEKEDDEVETDQNIRYGRKLIEQG


    Database link: Q92834

  • Positive control

    • ICC/IF: RH-30 cells.

Properties

  • Form

    Liquid
  • Storage instructions

    Shipped 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 buffer

    pH: 7.2
    Preservative: 0.02% Sodium azide
    Constituents: 40% Glycerol, PBS
  • Concentration information loading...
  • Purity

    Immunogen affinity purified
  • Clonality

    Polyclonal
  • Isotype

    IgG
  • Research areas

Applications

Our Abpromise guarantee covers the use of ab221969 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

Application Abreviews Notes
ICC/IF Use a concentration of 1 - 4 µg/ml.

Fixation/Permeabilization: PFA/Triton X-100.

Target

  • Function

    Could be a guanine-nucleotide releasing factor.
  • Tissue specificity

    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.
  • Involvement in disease

    Defects 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 similarities

    Contains 6 RCC1 repeats.
  • Post-translational
    modifications

    Prenylated.
  • Cellular localization

    Golgi apparatus.
  • Information by UniProt
  • Database links

  • Alternative names

    • COD1 antibody
    • Cone Dystrophy 1 (X-Linked) antibody
    • CORDX1 antibody
    • CRD antibody
    • Orf15 antibody
    • PCDX antibody
    • Retinitis Pigmentosa 15 antibody
    • Retinitis Pigmentosa GTPase Regulator antibody
    • RP15 antibody
    • RP3 antibody
    • RPGR antibody
    • RPGR_HUMAN antibody
    • X-linked retinitis pigmentosa GTPase regulator antibody
    • XLRP3 antibody
    see all

Images

  • PFA-fixed, Triton X-100 permeabilized RH-30 cells stained for RPGR (green) using ab221969 at 4 µg/ml in ICC/IF.

References

ab221969 has not yet been referenced specifically in any publications.

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