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    發布時間:2022-07-13 15:02 原文鏈接: 免疫相關信號通路PLCG2基因的臨床解釋

    該基因編碼的蛋白是一種跨膜信號酶,利用鈣作為輔因子催化1-磷脂酰-1d-肌醇4,5-二磷酸轉化為1d-肌醇1,4,5-三磷酸(IP3)和二酰甘油(DAG)。IP3和DAG是第二信使分子,對通過細胞膜傳遞生長因子受體和免疫系統受體的信號很重要。該基因突變見于自身炎癥、抗體缺乏、免疫失調綜合征和家族性感冒自身炎癥綜合征3。
    The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3.

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