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  • 發布時間:2022-08-05 15:16 原文鏈接: 與肝癌相關的PRKACA基因編碼功能描述

    該基因編碼蛋白激酶A的一個催化亞單位,作為一種具有兩個調節亞單位和兩個催化亞單位的四聚體全酶以非活性形式存在。cAMP使非活性全酶解離成一個調節亞單位二聚體,與四個cAMP和兩個自由單體催化亞單位結合。人類已鑒定出四種不同的調節亞單位和三種催化亞單位。蛋白激酶A的cAMP依賴性磷酸化對許多細胞過程,包括分化、增殖和凋亡都很重要。由體細胞突變或包括該基因的區域的基因組重復引起的該基因的組成性激活與腎上腺皮質增生和腺瘤有關,并與促腎上腺皮質激素依賴性庫欣綜合征有關。選擇性剪接導致編碼不同亞型的多個轉錄變體。已經描述了在N端不同的組織特異性亞型,并且這些亞型可能在一些亞型的N端發生的翻譯后修飾中有所不同。
    This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. cAMP-dependent phosphorylation of proteins by protein kinase A is important to many cellular processes, including differentiation, proliferation, and apoptosis. Constitutive activation of this gene caused either by somatic mutations, or genomic duplications of regions that include this gene, have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushing's syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. Tissue-specific isoforms that differ at the N-terminus have been described, and these isoforms may differ in the post-translational modifications that occur at the N-terminus of some isoforms.

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