Recombinant Human Protein RD3 (RD3)

Uniprot Id

Q7Z3Z2

Target Species

Human

Target Name

RD3

Target Full Name

Protein RD3

Target Function

Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors. 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. Involved in the transport of GUCY2D and GUCY2F to their target sites in the photoreceptor outer segment. Up-regulates the activity of GUK1, a kinase that plays also an essential role for recycling GMP and indirectly, cGMP. Plays an important role for the survival of rods and cones in the retina.

Target Involvement

Leber congenital amaurosis 12 (LCA12)

Target Subcellular Location

Cell projection, cilium, photoreceptor outer segment. Photoreceptor inner segment. Endosome. Nucleus. Cytoplasm. Cytoplasm, perinuclear region.

Target Tissue Specificity

Expressed in retina. Widely expressed (at protein level). 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

Target Research Area

Neuroscience

Target Synonyms

RD3; C1orf36; Protein RD3; Retinal degeneration protein 3

Target 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.