SpliceAtlasDB
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🧬 基因注释:APEX1

📝 官方信息

官方名称:apurinic/apyrimidinic endodeoxyribonuclease 1

功能摘要:The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019].

🎯 作为靶基因的剪接因子
🏥 关联疾病

该基因暂无关联疾病记录

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