Локус RP2 является одной из причин Х-хромосомного пигментного ретинита. Предсказанный продукт гена показывает гомологию с человеческим кофактором С, белком, участвующим в конечном этапе бета-тубулинового сворачивания. Поэтому прогрессирующая дегенерация сетчатки может быть связана с накоплением неправильно свернутых фоторецепторов или нейрон-специфических изоформ тубулина с последующей прогрессирующей гибелью клеток.[3]
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