The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008].
Liu, Qin, Yu, Soares, Yang, Weng, Li, Gao, Lu, Hu, Liu, Jiang, Liu, Shu, Tang, Liu: "Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish." in: The Journal of biological chemistry, Vol. 292, Issue 15, pp. 6225-6239, (2017) (PubMed).