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    發布時間:2022-08-02 21:20 原文鏈接: PKD2基因突變因子與藥物介紹

    這個基因編碼多囊蛋白家族的一個成員。編碼蛋白是一種多程膜蛋白,具有鈣離子通道的功能,參與腎上皮細胞鈣離子轉運和鈣信號轉導該蛋白與多囊蛋白1相互作用,它們可能是參與腎小管形態發生的共同信號級聯的伙伴。該基因突變與常染色體顯性遺傳多囊腎病2型相關[由RefSeq提供,2011年3月]
    This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]

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