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  • 發布時間:2022-08-16 07:32 原文鏈接: KAT6A基因編碼功能及結構描述

    該基因編碼組蛋白乙酰基轉移酶的MOZ,YBFR2,SAS2,TIP60家族的成員。 該蛋白質由核定位域,與乙酰化組蛋白尾巴結合的雙C2H2鋅指結構域,組蛋白乙酰轉移酶域,富含谷氨酸/天冬氨酸的區域以及富含絲氨酸和蛋氨酸的反式激活域組成。 它是乙酰化組蛋白3中賴氨酸9殘基的復合物的一部分,此外,它還充當多種轉錄因子的共激活因子。 該基因的等位基因變異與認知障礙的常染色體顯性形式有關。 該基因的染色體易位與急性髓細胞性白血病有關。 選擇性剪接導致多個轉錄物變體。 [由RefSeq提供,2017年7月]

    This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
     

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