Retinitis Pigmentosa 2, X-Linked Recessive (RP2)

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.The predicted gene product showed homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Northern blot hybridization with the cDNA revealed a 4-kb transcript in all fetal and adult tissues examined. RT-PCR showed expression in adult human retina using nested primers flanking the translation start and stop codons, respectively, which amplified a fragment of 1.2 kb.