Retinitis pigmentosa GTPase regulator

4JHN, 4JHP, 4QAM610319893ENSG00000156313ENSMUSG00000031174Q92834Q9R0X5NM_000328NM_001023582NM_001034853NM_011285NP_001354177NP_001354178NP_001354179NP_001354180NP_035415X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene. X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene. This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. 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. Retinitis pigmentosa GTPase regulator has been shown to interact with PDE6D nephronophthisis (NPHP) proteins and RPGRIP1.