Rpgr Gene Search Result

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3 records found for search term Rpgr

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1557212	Rpgr	retinitis pigmentosa GTPase regulator	Predicted to enable ubiquitin protein ligase activity. Involved in intraciliary transport. Acts upstream of or within cellular response to light stimulus; eye morphogenesis; and visual perception. Located in several cellular components, including ciliary basal body; photoreceptor distal connecting c ... (more) ilium; and sperm flagellum. Is expressed in several structures, including genitourinary system; liver; nervous system; sensory organ; and spleen. Used to study X-linked cone-rod dystrophy 1 and retinitis pigmentosa 3. 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 2025]	X	10024455	10083034	Mouse	227	symbol , PhenoGen , description , old_gene_symbol	gene, protein-coding, VALIDATED [RefSeq]
1321923	Rpgrip1	retinitis pigmentosa GTPase regulator interacting protein 1	Acts upstream of or within eye development; neural precursor cell proliferation; and visual perception. Located in axoneme and photoreceptor distal connecting cilium. Is expressed in brain; cerebral cortex; photoreceptor layer outer segment; retina outer nuclear layer; and telencephalon ventricular ... (more) layer. Used to study Leber congenital amaurosis 6. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 6; Leber hereditary optic neuropathy; cone-rod dystrophy 13; and retinitis pigmentosa. Orthologous to human RPGRIP1 (RPGR interacting protein 1). [provided by Alliance of Genome Resources, Jul 2025]	14	52341698	52398796	Mouse	133	symbol , old_gene_name , PhenoGen , description	gene, protein-coding, VALIDATED [RefSeq]
1322375	Rpgrip1l	Rpgrip1-like	Predicted to enable thromboxane A2 receptor binding activity. Acts upstream of or within several processes, including embryonic limb morphogenesis; nervous system development; and non-motile cilium assembly. Located in ciliary basal body; ciliary transition zone; and cytoplasm. Is expressed in organ ... (more) of Corti; ovary; and testis. Used to study Joubert syndrome 7 and Meckel syndrome. Human ortholog(s) of this gene implicated in several diseases, including Joubert syndrome 7; Meckel syndrome 5; anencephaly; retinitis pigmentosa 3; and vascular dementia. Orthologous to human RPGRIP1L (RPGRIP1 like). [provided by Alliance of Genome Resources, Jul 2025]	8	91943658	92039919	Mouse	315	symbol , old_gene_name , PhenoGen , name , description	gene, protein-coding, VALIDATED [RefSeq]