Human Crystallin Variation and Cataract.

Abstract excerpt

Cataract is a leading cause of reversible childhood blindness worldwide and is largely attributable to mutations in crystallin-encoding genes of the α-, β-, and γ-crystallin families. Crystallins account for over 90% of total lens proteins and are indispensable for maintaining lens transparency and long-term proteostasis. These three crystallin families display distinct structural organizations and functional...

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