Overview

  • Product name
  • Description
    Mouse polyclonal to PRPH2
  • Host species
    Mouse
  • Tested applications
    Suitable for: WBmore details
  • Species reactivity
    Reacts with: Human
    Predicted to work with: Mouse, Rat, Cow, Cat, Dog
  • Immunogen

    Full length protein corresponding to Human PRPH2 aa 1-346.
    Sequence:

    MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIGLRKRSD VMNNSESHFVPNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKP YLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRC FMKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNV DGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQTEELNLWVRGC RAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESE SESEGWLLEKSVPETWKAFLESVKKLGKGNQVEAEGAGAGQAPEAG


    Database link: AAH74720.1

  • Positive control
    • PRPH2 transfected 293T cell line.

Properties

Applications

Our Abpromise guarantee covers the use of ab172264 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
WB Use a concentration of 1 µg/ml. Predicted molecular weight: 39 kDa.

Target

  • Function
    May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis.
  • Tissue specificity
    Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.
  • Involvement in disease
    Defects in PRPH2 are the cause of retinitis pigmentosa type 7 (RP7) [MIM:608133]. RP leads to degeneration of retinal photoreceptor cells. 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.
    Defects in PRPH2 are a cause of retinitis punctata albescens [MIM:136880].
    Defects in PRPH2 are a cause of adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]. AVMD is a rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.
    Defects in PRPH2 are a cause of patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]. Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders. Three main types of PDREP have been described: reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy.
    Defects in PRPH2 are a cause of choroidal dystrophy central areolar type 2 (CACD2) [MIM:613105]. It is a disorder which affects the posterior pole of the eye, and early lesions consist of a non-specific area of granular hyperpigmentation at the fovea. The characteristic sign of the disorder, a zone of atrophy that develops in the macula of the eye and involves the retinal pigment epithelium and the choriocapillaris, occurs several decades after onset.
    Note=Defects in PRPH2 are found in different retinal diseases including cone-rod dystrophy, retinitis pigmentosa, macular degeneration. The mutations underlying autosomal dominant retinitis pigmentosa and severe macular degeneration are largely missense or small in-frame deletions in a large intradiscal loop between the third and fourth transmembrane domains. In contrast, those associated with the milder pattern phenotypes or with digenic RP are scattered more evenly through the gene and are often nonsense mutations. This observation correlates with the hypothesis that the large loop is an important site of interaction between PRPH2 molecules and other protein components in the disk.
  • Sequence similarities
    Belongs to the PRPH2/ROM1 family.
  • Cellular localization
    Membrane.
  • Information by UniProt
  • Database links
  • Alternative names
    • AOFMD antibody
    • AVMD antibody
    • CACD2 antibody
    • DS antibody
    • Peripherin 2 (retinal degeneration, slow) antibody
    • Peripherin 2, homolog of mouse antibody
    • Peripherin, photoreceptor type antibody
    • Peripherin-2 antibody
    • PRPH antibody
    • PRPH2 antibody
    • PRPH2_HUMAN antibody
    • Rd2 antibody
    • RDS antibody
    • Retinal degeneration slow protein antibody
    • Retinal peripherin antibody
    • RP7 antibody
    • Tetraspanin-22 antibody
    • Tspan-22 antibody
    • TSPAN22 antibody
    see all

Images

  • All lanes : Anti-PRPH2 antibody (ab172264) at 1 µg/ml

    Lane 1 : PRPH2 transfected 293T cell line lysate
    Lane 2 : Non-transfected 293T cell line lysate

    Lysates/proteins at 15 µl per lane.

    Developed using the ECL technique.

    Predicted band size: 39 kDa

References

This product has been referenced in:
  • Schietroma C  et al. Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. J Cell Biol 216:1849-1864 (2017). Read more (PubMed: 28495838) »
See 1 Publication for this product

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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