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  • 發布時間:2022-08-23 12:20 原文鏈接: WWOX基因編碼的功能和結構描述

    該基因編碼短鏈脫氫酶/還原酶(SDR)蛋白家族的一個成員該基因跨越FRA16D染色體上常見的脆性位點,具有抑癌基因的功能編碼蛋白的表達能夠誘導細胞凋亡,而該基因的缺陷與多種類型的癌癥有關。這種基因的破壞也與常染色體隱性遺傳脊髓小腦共濟失調12有關。在小鼠中,類似基因的破壞導致類固醇生成受損,此外還表明該蛋白具有代謝功能。選擇性剪接導致多個轉錄變體[。

    This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants.

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