Gene:
retinitis pigmentosa 2 (X-linked recessive)
Gene ID:
209955
Symbol:
RP2
Species:
1000
Description:
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