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简要描述:A gene on chromosome 20q13.1 encodes Eya2 (eyes absent). EYA2 is one of four members of the eyes absent family. A 271 amino acid domain at the carboxy-terminal is highly conserved amongst the members of the eyes absent family, while the PST (proline-serive-threonin)-rich amino-terminal is highly divergent. EYA2 is expressed relatively late in development in the cytoplasm of extensor tendons and ligaments of the phalangeal elements of the limb, cranial placodes, branchial arches, central nervou
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