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  • 發布時間:2022-07-20 16:49 原文鏈接: 與免疫相關信號通路相關因子介紹KLHL6

    該基因編碼kelch樣蛋白(klhl)家族的一個成員,參與b淋巴細胞抗原受體信號轉導和生發中心b細胞成熟。編碼的蛋白質包含一個N-末端寬復合物、tramrack和bric a brac(BTB)結構域,該結構域促進蛋白質結合和二聚,一個BTB和C-末端kelch(back)結構域,以及六個C-末端kelch重復結構域。這種基因的自然突變與慢性淋巴細胞白血病有關。選擇性剪接導致多個轉錄變體。[由RefSeq提供,2017年2月]
    This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

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