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RP2 (gene)
Protein XRP2 is a protein that in humans is encoded by the ''RP2'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6102 )〕 == Function ==
The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death.〔 The RP2 protein is also involved in regulating the function and extension of outer segment of cone photoreceptors in mice
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「RP2 (gene)」の詳細全文を読む
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