RD3 rabbit pAb

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]

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) . .