RP2, Official Symbol RP2provided by HGNC Official Full Name RP2 activator of ARL3 GTPaseprovided by HGNC Primary source HGNC:HGNC:10274 See related Ensembl:ENSG00000102218 MIM:300757; AllianceGenome:HGNC:10274 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as XRP2; NME10; TBCCD2; NM23-H10; DELXp11.3 Summary 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 [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 18.5), placenta (RPKM 13.6) and 24 other tissues See more Orthologs mouse all