Retinal Degeneration Protein 3 (RD3)

C1ORF36 gene contains at least 3 exons and spans over 15.45 kb. The mouse C1orf36 gene also contains at least 3 exons.The deduced 195-amino acid protein has a calculated molecular mass of 22.7 kD. It contains an N-terminal mitochondrial targeting signal, a possible coiled-coil domain, and 2 potential phosphorylation sites. Other ESTs suggested the presence of alternative 5-prime exons. PCR analysis of 6 human tissues detected C1ORF36 only in retina. In situ hybridization of adult mouse retina detected expression in the outer nuclear layer, the inner nuclear layer, and the ganglion cell layer.In transiently transfected COS-1 cells, the Rd3 fusion protein showed subnuclear localization adjacent to promyelocytic leukemia gene product (PML) bodies.