Reactive species
Human; Mouse
Applications
WB;ELISA;IHC
Antibody type
Polyclonal Antibody
Immunogen
Synthesized peptide derived from human RD3 AA range: 126-176
Specificity
This antibody detects endogenous levels of RD3 at Human/Mouse
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source
Polyclonal, Rabbit,IgG
Dilution rate
WB 1:500-2000;IHC-p 1:50-300; ELISA 2000-20000
Purification process
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
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],
Function
disease:Defects in RD3 are the cause of Leber congenital amaurosis type 12 (LCA12) [MIM:610612]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.,tissue specificity:Preferentially expressed in retina.,