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    發布時間:2022-07-15 10:26 原文鏈接: 細胞代謝信號通路相關的基因介紹SLCO1B3基因

    該基因編碼有機陰離子轉運蛋白家族的肝臟特異性成員。編碼蛋白是一種跨膜受體,介導內源性和外源性化合物的鈉獨立攝取,在膽汁酸和膽紅素轉運中起關鍵作用。該基因突變是轉子型高膽紅素血癥的原因之一。該基因的選擇性剪接和選擇性啟動子的使用導致編碼不同亞型的轉錄變體,其組織特異性不同。[由RefSeq提供,2017年3月]
    This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. [provided by RefSeq, Mar 2017]

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