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  • 發布時間:2022-08-08 16:34 原文鏈接: 與白血病相關的SETBP1基因編碼功能描述

    這個基因編碼一種蛋白質,除了三個核定位信號外,還包含幾個基序,包括一個ski同源區和一個集合結合區。編碼蛋白已被證明與參與DNA復制的set核癌基因結合。該基因突變與Schinzel-Giedion中面部回縮綜合征有關。已發現編碼該基因不同亞型的多種轉錄變體。
    This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.

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