RPGR Proteins

Protein Information

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.

Synonyms

COD1; CORDX1; CRD; mRpgr; orf15; PCDX; retinitis pigmentosa 15; retinitis pigmentosa 3 GTPase regulator; retinitis pigmentosa GTPase regulator; RP15; RP3; Rp3h; Rpgr; X-linked retinitis pigmentosa GTPase regulator; XLRP3