Disease relevance of Rpgr

• A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3) [1].

High impact information on Rpgr

• Mice lacking RPGRIP elaborate grossly oversized outer segment disks resembling a cytochalasin D-induced defect and have a more severe disease than mice lacking RPGR [2].
• The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis [2].
• The X-linked RP3 locus codes for retinitis pigmentosa GTPase regulator (RPGR), a protein of unknown function with sequence homology to the guanine nucleotide exchange factor for Ran GTPase [1].
• The function of RPGR is essential for the long-term maintenance of photoreceptor viability [1].
• These data point to a role for RPGR in maintaining the polarized protein distribution across the connecting cilium by facilitating directional transport or restricting redistribution [1].

Biological context of Rpgr

• Variant mRpgr isoforms are generated by alternative splicing and by utilizing two in-frame initiation codons [3].
• The mRpgr transcripts are detected as early as E7 during embryonic development and are expressed widely in the adult mice [3].

Anatomical context of Rpgr

• We show that RPGR is absent in the CC of photoreceptors lacking RPGRIP, but not vice versa [2].
• RPGR was found normally localized to the connecting cilia of rod and cone photoreceptors [1].
• In transfected COS cells, the mRpgr protein is isoprenylated and is localized in the Golgi complex [3].

Other interactions of Rpgr

• As in humans, the mRpgr gene maps within 50 kilobases from the 5'-end of the Otc gene [3].

References