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  • 發布時間:2022-08-05 14:40 原文鏈接: 與乳腺癌相關的FOXP3基因編碼功能描述

    該基因編碼的蛋白質是轉錄調節器叉頭/翼螺旋家族的成員。這種基因的缺陷是導致免疫缺陷的原因:多內分泌疾病、腸病、X連鎖綜合癥(IPEX),也稱為X連鎖自身免疫性免疫缺陷綜合癥。另外,還發現了編碼不同亞型的剪接轉錄變體。
    The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified.

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