RPGR Back

retinitis pigmentosa GTPase regulator

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NCBI Description of RPGR
This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined.

Community Annotation of RPGR Add / Edit RPGR: Annotations

No community annotations yet for RPGR.
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

RPGR is highly significantly mutated in
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RPGR is significantly mutated in
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RPGR is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for RPGR