Search :
Sign in or Register  
Welcome Sign in or Don't have an account?Register

Mouse Anti-RPGRIP1 Recombinant Antibody (CBCNR-700) (CBMAB-R3334-CN)


See all RPGRIP1 antibodies
Online Inquiry

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBCNR-700
Antibody Isotype
IgG2a, κ
Application
WB, ELISA

Basic Information

Immunogen
RPGRIP1 (NP_065099.2, aa. 1187-1286) partial recombinant protein with GST tag
Specificity
Human
Antibody Isotype
IgG2a, κ
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Buffer
1× PBS, pH 7.2

Target

Full Name
retinitis pigmentosa GTPase regulator interacting protein 1
Introduction
This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]
Entrez Gene ID
57096
UniProt ID
Q96KN7
Alternative Names
RPGR Interacting Protein 1; Retinitis Pigmentosa GTPase Regulator Interacting Protein 1; X-Linked Retinitis Pigmentosa GTPase Regulator-Interacting Protein 1; RPGR-Interacting Protein 1; RPGRIP1d; CORD13;
Function
May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells.
Biological Process
Biological Process neural precursor cell proliferationIEA:Ensembl
Biological Process non-motile cilium assemblyManual Assertion Based On ExperimentIBA:GO_Central
Biological Process response to stimulusIEA:UniProtKB-KW
Biological Process retinal rod cell developmentManual Assertion Based On ExperimentIBA:GO_Central
Biological Process visual perceptionIEA:UniProtKB-KW
Cellular Location
Cell projection, cilium
Situated between the axonemal microtubules and the plasma membrane (By similarity).
In the retinal photoreceptor cell layer, localizes at the connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (By similarity).
Colocalizes with RGPR in the photoreceptor connecting cilium (By similarity).
Involvement in disease
Leber congenital amaurosis 6 (LCA6):
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Cone-rod dystrophy 13 (CORD13):
An inherited retinal dystrophy 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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
More Infomation
Ask a question We look forward to hearing from you.
0 reviews or Q&As

Purchasing FAQs
Technical FAQs

Loading...
Have you used Mouse Anti-RPGRIP1 Recombinant Antibody (CBCNR-700)?
Submit a review and get a Coupon or an Amazon gift card. 20% off Coupon $30 eGift Card
Submit a review
Loading...
For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

Learn more

Documents

Request bulk or custom quote Online Inquiry
Second antibody and isotype control

Contact us

  • Tel: (USA)
  • (UK)
  • Fax:
  • Email:

Submit A Review

Online Inquiry