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β-淀粉样前体蛋白基因定位于21号染色体长臂,具“管家基因”结构特点。在组织中广泛表达但有一定的特异性。其近侧启动子区(-96～+101)为转录活性所必需,研究发现β-淀粉样前体蛋白基因表达调控由多种顺式元件和反式因子的相互作用所决定。β-淀粉样前体蛋白呈细胞表面受体构象,具有多种生物学功能。业已证明其分子生物学功能的改变与Alzheimer’s病的发生、发展有着十分密切的关系。
The β-amyloid precursor protein gene is located on the long arm of chromosome 21 and has the structural characteristics of “housekeeping gene”. Widely expressed in the organization but with a certain specificity. The proximal promoter region (-96 ~ +101) is required for transcriptional activity. It was found that the regulation of β-amyloid precursor protein gene expression is determined by the interaction of various cis-elements and trans-factors. The β-amyloid precursor protein assumes the cell surface receptor conformation and has a variety of biological functions. Alzheimer’s disease has been proved to have a close relationship with the development of Alzheimer’s disease.