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.,
相關產(chǎn)品： RS0001,RS0002,YM3028,YM3029
細胞定位： 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). .
組織表達： 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).
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.,
相關產(chǎn)品： RS0001,RS0002,YM3028,YM3029
細胞定位： 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). .
組織表達： 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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