CD2AP
該基因編碼一種調節肌動蛋白細胞骨架的"支架分子"(在神經元通路中的廣大連結區域聚積的蛋白分子)。該蛋白質直接與絲狀肌動蛋白、及通過多種肌動蛋白結合位點的各種細胞膜的蛋白質、SH3結構域(SH3 domain),以及含有SH3結構域結合位點之"富含脯氨酸區域"(proline-rich region)等交互作用。胞質蛋白定位於膜皺褶(Membrane ruffling),脂筏(Lipid raft)和細胞的前緣。它牽涉到在受體的內吞作用和"胞質分裂"(cytokinesis)發生動態肌動蛋白重塑(actin remodeling)和膜交換。該基因的"單倍劑量不足"(Haploinsufficiency)牽涉到易感性的腎小球疾病。[2]
參見
註釋
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