Retinitis pigmentosa GTPase regulator pseudogene

Retinitis pigmentosa GTPase regulator pseudogene (ENSG00000254564) is classified as a pseudogene in the human genome, related to the protein-coding gene RPGR. While RPGR plays an essential role in retinal photoreceptor ciliary trafficking and is implicated in X-linked retinitis pigmentosa, the pseudogene does not encode a functional protein nor is it involved in cellular processes, disease, or pharmacology[4][5]. Pseudogenes typically result from gene duplication or retrotransposition and often lack coding potential or biological activity. Therefore, ENSG00000254564 is not a therapeutic target or biomarker, and does not possess disease roles, mechanisms of drug action, or safety concerns associated with therapeutic intervention[4][5]. Any references to targeting the RPGR pseudogene are likely incorrect, and research should focus instead on the RPGR protein-coding gene in relevant disease or drug studies. If you were seeking information on the functional target (RPGR), please clarify, as RPGR itself is a validated disease target in retinitis pigmentosa with clinical trials underway for gene therapy[8]. However, ENSG00000254564 specifically denotes a non-functional pseudogene[4].

Other names

Retinitis pigmentosa GTPase regulator pseudogeneRPGR pseudogene