RPGR, Official Symbol RPGRprovided by HGNC Official Full Name retinitis pigmentosa GTPase regulatorprovided by HGNC Primary source HGNC:HGNC:10295 See related Ensembl:ENSG00000156313 MIM:312610; AllianceGenome:HGNC:10295 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 CRD; RP3; COD1; PCDX; RP15; XLRP3; orf15; CORDX1 Summary This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008] Expression Ubiquitous expression in testis (RPKM 2.6), lung (RPKM 2.3) and 25 other tissues See more Orthologs mouse all