Mouse Anti-RD3 Recombinant Antibody (D-11) (CBMAB-R1975-CN)

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Basic Information

Host Animal
Mouse
Clone
D-11
Application
WB, IP, IF, ELISA
Specificity
Human
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.
More Infomation

Target

Full Name
Retinal Degeneration 3
Introduction
This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Entrez Gene ID
UniProt ID
Alternative Names
Retinal Degeneration 3; Retinal Degeneration Protein 3; C1orf36; Chromosome 1 Open Reading Frame 36; Protein RD3; LCA12;
Function
Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors (PubMed:29515371, PubMed:21928830, PubMed:21078983, PubMed:27471269, PubMed:30559291).
Inhibits the basal catalytic activity and the GCAP-stimulated activity of GUCY2D and GUCY2F, two retinal guanylyl cyclases involved in the production of cGMP in photoreceptors (PubMed:21928830, PubMed:27471269, PubMed:29515371, PubMed:30559291).
Involved in the transport of GUCY2D and GUCY2F to their target sites in the photoreceptor outer segment (PubMed:21078983).
Up-regulates the activity of GUK1, a kinase that also plays an essential role for recycling GMP and indirectly, cGMP (PubMed:29515371).
Plays an important role for the survival of rods and cones in the retina (By similarity).
Biological Process
Biological Process negative regulation of guanylate cyclase activityManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein transportManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process response to stimulusIEA:UniProtKB-KW
Biological Process retina development in camera-type eyeISS:UniProtKB
Biological Process visual perceptionISS:UniProtKB
Cellular Location
Cell projection, cilium, photoreceptor outer segment
Photoreceptor inner segment
Endosome
Nucleus
Cytoplasm
Cytoplasm, perinuclear region
Colocalizes with GUCY2E and GUCY2F in rods and cones photoreceptors. Colocalizes with GUK1 in photoreceptor inner segments and to a lesser extent in the outer plexiform layer (By similarity).
Strong dot-like perinuclear staining in the epithelial cells (PubMed:29030614).
Involvement in disease
Leber congenital amaurosis 12 (LCA12):
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.
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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.).

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