Rpgr - retinitis pigmentosa GTPase regulator

Predicted to be involved in cilium assembly and intraciliary transport. Predicted to act upstream of or within cellular response to light stimulus; eye morphogenesis; and visual perception. Located in cilium. Human ortholog(s) of this gene implicated in X-linked atrophic macular degeneration; X-linked cone-rod dystrophy 1; X-linked retinitis pigmentosa and sinorespiratory infections; retinitis pigmentosa; and retinitis pigmentosa 3. Orthologous to human RPGR (retinitis pigmentosa GTPase regulator). [provided by Alliance of Genome Resources, Apr 2022]