RPE65
関連文献

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“The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3”. Genomics 20 (3):  509–12. (Apr 1994). doi:10.1006/geno.1994.1212. PMID 8034329.
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“Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy”. Nature Genetics 17 (2):  194–7. (Oct 1997). doi:10.1038/ng1097-194. PMID 9326941.
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“Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein”. Investigative Ophthalmology & Visual Science 39 (3):  637–44. (Mar 1998). PMID 9501877.
“Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene”. European Journal of Human Genetics 6 (5):  527–31. (1999). doi:10.1038/sj.ejhg.5200205. PMID 9801879.
“Identification of RPE65 in transformed kidney cells”. FEBS Letters 452 (3):  199–204. (Jun 1999). doi:10.1016/S0014-5793(99)00606-7. PMID 10386590.
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“Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively”. American Journal of Human Genetics 70 (1):  224–9. (Jan 2002). doi:10.1086/338455. PMC 384890. PMID 11727200. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC384890/.
“Clinical course and visual function in a family with mutations in the RPE65 gene”. Archives of Ophthalmology 120 (1):  55–61. (Jan 2002). doi:10.1001/archopht.120.1.55. PMID 11786058.
“RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases”. Journal of Genetics 81 (1):  19–23. (Apr 2002). doi:10.1007/BF02715866. PMID 12357075.
“A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population”. Journal of Medical Genetics 40 (9):  709–13. (Sep 2003). doi:10.1136/jmg.40.9.709. PMC 1735582. PMID 12960219. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735582/.
視覚サイクルにおいてRPE65によって行われる反応
RPE65のFe(II)補因子には、4つのヒスチジン残基と3つのグルタミン酸残基が配位している。
提唱されているRPE65によるO-アルキル開裂の機構。示されている残基は左上から時計回りに、Phe103、Thr147、His313、His527、His180、His241、Glu148である。