Human ATP-binding cassette (ABC) transporter family.
Human ATP-binding cassette (ABC) transporter family.
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DOI：
10.1186/1479-7364-3-3-281
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发表时间：
2009-04
期刊：
影响因子：
4.5
通讯作者：
Nebert DW
中科院分区：
文献类型：
--
作者：
Vasiliou V;Vasiliou K;Nebert DW
有四种基本不同的膜结合转运蛋白：离子通道；转运蛋白;水通道蛋白;和atp动力泵。atp结合盒（ABC）转运体是atp依赖泵的一个例子。ABC转运蛋白是无所不在的膜结合蛋白，存在于所有原核生物以及植物、真菌、酵母和动物中。这些泵可以将底物移进（内流）或移出（外排）细胞。在哺乳动物中，ABC转运蛋白主要在肝脏、肠道、血脑屏障、血睾丸屏障、胎盘和肾脏中表达。ABC蛋白运输许多内源性底物，包括无机阴离子、金属离子、多肽、氨基酸、糖和大量疏水化合物和代谢物穿过质膜，也穿过细胞膜。人类基因组包含49个ABC基因，排列在8个亚家族中，并通过不同的进化来命名。ABC基因的重要性被以下事实所强调：这些基因中至少有1 - 1的突变已经被认为会导致严重的遗传性疾病（如囊性纤维化和x -连锁肾上腺脑白质营养不良[X-ALD]）。ABC转运蛋白还参与大多数药物及其代谢物穿过细胞表面和细胞器膜的运动；因此，这些基因的缺陷在癌症治疗、药代动力学和无数的药物遗传疾病方面可能是重要的。
There exist four fundamentally different classes of membrane-bound transport proteins: ion channels; transporters; aquaporins; and ATP-powered pumps. ATP-binding cassette (ABC) transporters are an example of ATP-dependent pumps. ABC transporters are ubiquitous membrane-bound proteins, present in all prokaryotes, as well as plants, fungi, yeast and animals. These pumps can move substrates in (influx) or out (efflux) of cells. In mammals, ABC transporters are expressed predominantly in the liver, intestine, blood-brain barrier, blood-testis barrier, placenta and kidney. ABC proteins transport a number of endogenous substrates, including inorganic anions, metal ions, peptides, amino acids, sugars and a large number of hydrophobic compounds and metabolites across the plasma membrane, and also across intracellular membranes. The human genome contains 49 ABC genes, arranged in eight subfamilies and named via divergent evolution. That ABC genes are important is underscored by the fact that mutations in at least I I of these genes are already known to cause severe inherited diseases (eg cystic fibrosis and X-linked adrenoleukodystrophy [X-ALD]). ABC transporters also participate in the movement of most drugs and their metabolites across cell surface and cellular organelle membranes; thus, defects in these genes can be important in terms of cancer therapy, pharmacokinetics and innumerable pharmacogenetic disorders.