• 靶点：
• RD3

• 基因名称：
• RD3 C1orf36

• 蛋白名称：
• RD3

• Human Gene Id：
• 343035

• Human Swiss Prot No：
• Q7Z3Z2

• Mouse Gene Id：
• 74023

• Mouse Swiss Prot No：
• Q8BRE0

• 免疫原：
• Synthesized peptide derived from human RD3 AA range: 126-176

• 特异性：
• This antibody detects endogenous levels of RD3 at Human/Mouse

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Polyclonal, Rabbit,IgG

• 稀释：
• WB 1:500-2000;IHC 1:50-300; ELISA 2000-20000

• 纯化工艺：
• The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

• 浓度：
• 1 mg/ml

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 分子量：
• 21kD

• 背景：
• 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],

• 功能：
• 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.,

• 细胞定位：
• 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). .

• 组织表达：
• Expressed in retina (PubMed:12914764). Widely expressed (at protein level) (PubMed:29030614). In the retina the strongest immunoreactivity is detected in the inner half of the cytoplasmic portion of the photoreceptor layer, where rods and cones are found, and the external half of the outer plexiform layer (at protein level) (PubMed:29030614).

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