Gene:
retinitis pigmentosa 1 (autosomal dominant)
Gene ID:
200197
Symbol:
RP1
Species:
1000
Description:
Initially named for its response to in vivo retinal oxygen levels (designated ORP1 for 'oxygen-regulated protein-1'), this gene was subsequently linked to autosomal dominant retinitis pigmentosa and was renamed RP1 for 'retinitis pigmentosa 1'. The data suggest that mutations in this gene cause dominant RP, and that the encoded protein has an important but unknown role in photoreceptor biology.