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  • 發布時間:2022-07-19 10:56 原文鏈接: G蛋白偶聯受體信號通路相關CXCR4

    該基因編碼基質細胞衍生因子-1特有的CXC趨化因子受體。該蛋白有7個跨膜區,位于細胞表面。它與CD4蛋白一起作用,支持HIV進入細胞,并在乳腺癌細胞中高度表達。該基因突變與突發性(疣、低丙種球蛋白血癥、感染和骨髓增生)綜合征有關。編碼不同亞型的替代轉錄剪接變異體已經被描述。
    This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

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