RGS9またはそのアンカータンパク質であるR9APの欠陥が,光受容体の遅い非活性化を有する患者で認められる

Koji M Nishiguchi1, Michael A Sandberg, Aart C Kooijman

  • 1Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA.

Nature
|January 1, 2004
PubMed
まとめ

RGS9とR9APのタンパク質は,視力にとって極めて重要です. これらの遺伝子の突然変異により,ブラディオプシア (bradyopsia) が発生し,これは光の適応能力の低下と,動く物を見る能力の低下によって特徴付けられる状態です.

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