Research School of Biology, Australian National University, Canberra, ACT 0200, Australia.
Curr Mol Pharmacol. 2013 Jul;6(2):74-87. doi: 10.2174/18744672113069990034.
Amino acid transporters of the SLC6 family mediate the Na(+)-dependent uptake of neutral amino acids into neurons and epithelial cells of the intestine, kidney and other organs. They are integral parts of amino acid homeostasis in the whole body and the brain. In the intestine they are involved in protein absorption, while in the kidney they regulate plasma amino acid concentrations through reabsorption. The metabolic role of SLC6 amino acid transporters in the brain is less clear and most likely related to anaplerosis of the TCA cycle. Mutations in these transporters cause rare inherited disorders such as Hartnup disorder and iminoglycinuria. They may also play a role in complex traits such as depression, anxiety, obesity, diabetes and cancer. The review does not cover the transport of neurotransmitter amino acids.
SLC6 家族的氨基酸转运蛋白介导中性氨基酸在神经元和肠道、肾脏和其他器官的上皮细胞中的 Na(+)-依赖性摄取。它们是全身和大脑中氨基酸稳态的重要组成部分。在肠道中，它们参与蛋白质吸收，而在肾脏中，它们通过重吸收调节血浆氨基酸浓度。SLC6 氨基酸转运蛋白在大脑中的代谢作用不太清楚，很可能与 TCA 循环的氨甲酰化作用有关。这些转运蛋白的突变会导致罕见的遗传性疾病，如 Hartnup 病和亚精氨酸尿症。它们也可能在抑郁、焦虑、肥胖、糖尿病和癌症等复杂特征中发挥作用。本综述不涵盖神经递质氨基酸的转运。
