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  • 發布時間:2022-07-26 15:08 原文鏈接: FGA基因突變與藥物因子介紹

    這個基因編碼凝血因子纖維蛋白原的α亞單位,它是血凝塊的組成部分。血管損傷后,編碼的前蛋白在纖維蛋白原轉化為纖維蛋白的過程中被凝血酶蛋白水解。該基因突變可導致多種疾病,包括纖維蛋白原異常、低纖維蛋白原血癥、無纖維蛋白原血癥和腎淀粉樣變性。選擇性剪接導致多個轉錄變體,其中至少一個編碼經歷蛋白水解處理的亞型。[由RefSeq提供,2016年1月]
    This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]

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