Product nameAnti-PDZD7 antibody
DescriptionMouse polyclonal to PDZD7
Tested applicationsSuitable for: WBmore details
Species reactivityReacts with: Human
Predicted to work with: Orangutan
- PDZD7 transfected 293T cell lysate.
Storage instructionsShipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term.
Storage bufferpH: 7.20
Constituent: 99% PBS
Concentration information loading...
PurityProtein A purified
Our Abpromise guarantee covers the use of ab169060 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||Use a concentration of 1 µg/ml. Predicted molecular weight: 55 kDa.|
Tissue specificityWeakly expressed in the inner ear. Expressed in the retinal pigment epithelium.
Involvement in diseaseNote=A chromosomal aberration disrupting PDZD7 has been found in patients with non-syndromic sensorineural deafness. Translocation t(10;11),t(10;11).
Defects in PDZD7 are a cause of Usher syndrome type 2C (USH2C) [MIM:605472]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. Note=PDZD7 mutations have been found in combination with mutations in USH2A and GPR98 in patients affected by Usher syndrome, suggesting a role as contributor to digenic Usher syndrome or a modifier of retinal disease expression.
Sequence similaritiesContains 2 PDZ (DHR) domains.
Cellular localizationCell projection > cilium. Nucleus.
- Information by UniProt
- 9130207N01 antibody
- EG435601 antibody
- OTTMUSP00000044304 antibody
All lanes : Anti-PDZD7 antibody (ab169060) at 1 µg/ml
Lane 1 : PDZD7 transfected 293T cell lysate
Lane 2 : Non-transfected 293T cell lysate
Lysates/proteins at 15 µl per lane.
All lanes : Goat Anti-Mouse IgG (H&L)-HRP at 1/2500 dilution
Developed using the ECL technique.
Predicted band size: 55 kDa
ab169060 has not yet been referenced specifically in any publications.