RPGR - Rpgr retinitis pigmentosa GTPase regulator Gene
Species: Rattus norvegicus
Summary
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]
RPGR Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001127601.2 | NP_001121073.1 | X-linked retinitis pigmentosa GTPase regulator isoform 2 |
| NM_001374059.1 | NP_001360988.1 | X-linked retinitis pigmentosa GTPase regulator isoform 1 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cell projection |
IDA
IDA: Inferred from direct assay
|
20805823 | RGD |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
X-linked retinitis pigmentosa GTPase regulator |
|