Retinitis pigmentosa GTPase regulator
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the RPGR gene.[1][2][3][4]
Function
This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. 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.[4]
Interactions
Retinitis pigmentosa GTPase regulator has been shown to interact with PDE6D[5] nephronophthisis (NPHP) proteins[6] and RPGRIP1.[7]
References
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Further reading
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