Retinitis Pigmentosa 1, Autosomal Dominant (RP1)

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. There is evidence for at least one transcript variant that overlaps the current reference sequence and which has several exons upstream and downstream of the current reference sequence. However, the full-length nature of this variant cannot be determined at this time.Expressed in retina. Not expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, spleen and pancreas.