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Retinitis pigmentosa GTPase regulator : ウィキペディア英語版 | Retinitis pigmentosa GTPase regulator
X-linked retinitis pigmentosa GTPase regulator is a GTPase-binding protein that in humans is encoded by the ''RPGR'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6103 )〕 == 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.〔
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