Protein Name | retinitis pigmentosa GTPase regulator |
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Organism | Mus musculus |
Gene ID | 19893 |
Gene Symbol | Rpgr |
UniProt | Q9R0X5 (RPGR_MOUSE), Q8CDM3 (Q8CDM3_MOUSE), Q3UTY5 (Q3UTY5_MOUSE), A0A067XG46 (A0A067XG46_MOUSE), A2ADP2 (A2ADP2_MOUSE), Q8CAJ5 (Q8CAJ5_MOUSE) |
Relationships |
Total Number of functionally related compound(s) :
10
Total Number of Articles : 6 |
Description |
retinitis pigmentosa GTPase regulator |
Gene Summary |
Predicted to enable guanyl-nucleotide exchange factor 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 cilium; and sperm flagellum. Is expressed in several structures, including genitourinary system; nervous system; and sensory organ. 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 2022] |
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