Gene Protein Transcript Blast result Transcript specific probe-cluster
Gene information for RP2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID6102
Official gene symbolRP2
Full nameretinitis pigmentosa 2 (X-linked recessive)
Gene summaryThe 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]
LocationChromosome: X   Locus: 
Gene position46696347 - 46741793  Map Viewer
OMIM ID300757