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RPGR - Gene Detail

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Gene Symbol RPGR
Synonyms COD1 | CORDX1 | CRD | orf15 | PCDX | RP15 | RP3 | XLRP3
Gene Description RPGR, retinitis pigmentosa GTPase regulator, is a ciliary protein, which acts as a guanine exchange factor for RAB8A and plays a role in protein trafficking in photoreceptors (PMID: 22563985). Germline RPGR mutations are associated with X-linked retinitis pigmentosa (PMID: 32094925) and mutations in RPGR have been reported in breast cancer (PMID: 26474971).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
6103 X Xp11.4 NM_000328 Unknown
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