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  • 發布時間:2022-07-25 11:13 原文鏈接: BRD2基因突變與藥物因子介紹

    該基因編碼一種轉錄調節因子,屬于bet(溴脫氧核糖和額外末端結構域)蛋白質家族。該蛋白在有絲分裂過程中與轉錄復合物和乙酰化染色質相結合,并通過其兩個溴代氨酸選擇性地與組蛋白H4的乙酰化賴氨酸-12殘基結合該基因定位于6p21.3號染色體上的主要組織相容性復合體(MHC)Ⅱ類區域,但序列比較表明該蛋白不參與免疫應答這個基因與青少年肌陣攣性癲癇有關,這是一種常見的癲癇形式,在青少年時期就很明顯了。已經描述了該基因的多個選擇性剪接變體[由RefSeq提供,2010年12月]
    This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010]

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