ABCA1 缺陷导致 Tangier 病
中文名称
通路描述
在 ATP 依赖的反应中，ATP 结合型 A 亚家族成员 1 (ABCA1) 介导细胞内胆固醇向质膜外表面移动。与细胞质囊泡结合的胆固醇是该反应的底物。在生理条件下，ABCA1 的活性形式在翻译后修饰 (棕榈酰化和磷酸化)，主要是四聚体形式，并与载脂蛋白 A-I (APOA1) 结合。ABCA1 缺陷可导致 Tangier 病 (TGD)，这是一种常染色体隐性疾病，其特征为血浆高密度脂蛋白 (HDL) 水平显著降低，导致胆固醇酯在组织中的积累。低 HDL 水平是冠状动脉心脏病 (CHD) 患者中最常见的生化异常之一。
英文描述
Defective ABCA1 causes TGD In an ATP-dependent reaction, ATP-binding cassette sub-family A member 1 (ABCA1) mediates the movement of intracellular cholesterol to the extracellular face of the plasma membrane. Cholesterol associated with cytosolic vesicles is a substrate for this reaction. Under physiologocal conditions, the active form of ABCA1 is post-translationally modified (palmitoylated and phosphorylated), predominantly a tetramer and is associated with apolipoprotein A-I (APOA1). Defects in ABCA1 can cause Tangier disease (TGD; MIM:205400 aka high density lipoprotein deficiency type 1), an autosomal recessive disorder characterised by significantly reduced levels of plasma high density lipoproteins (HDL) resulting in tissue accumulation of cholesterol esters (Brooks-Wilson et al. 1999). Low HDL levels are among the most common biochemical abnormalities observed in coronary heart disease (CHD) patients (Kolovou et al. 2006, Iatan et al. 2008, Iatan et al. 2012).
所含基因
1 个基因