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The functional impact of SLC6 transporter genetic variation.
Annual Review of Pharmacology and Toxicology ( IF 12.5 ) Pub Date : 2006-10-28 , DOI: 10.1146/annurev.pharmtox.47.120505.105242
Maureen K Hahn 1 , Randy D Blakely
Affiliation  

Solute carrier 6 (SLC6) is a gene family of ion-coupled plasma membrane cotransporters, including transporters of neurotransmitters, amino acids, and osmolytes that mediate the movement of their substrates into cells to facilitate or regulate synaptic transmission, neurotransmitter recycling, metabolic function, and fluid homeostasis. Polymorphisms in transporter genes may influence expression and activity of transporters and contribute to behavior, traits, and disease. Determining the relationship between the monoamine transporters and complex psychiatric disorders has been a particular challenge that is being met by evolving approaches. Elucidating the functional consequences of and interactions among polymorphic sites is advancing our understanding of this relationship. Examining the influence of environmental influences, especially early-life events, has helped bridge the gap between genotype and phenotype. Refining phenotypes, through assessment of endophenotypes, specific behavioral tasks, medication response, and brain network properties has also improved detection of the impact of genetic variation on complex behavior and disease.

中文翻译:

SLC6转运蛋白遗传变异的功能影响。

溶质载体6(SLC6)是离子耦合质膜共转运蛋白的基因家族,包括神经递质,氨基酸和渗透压的转运蛋白,介导其底物进入细胞的运动,以促进或调节突触传递,神经递质的循环利用,代谢功能,和流体稳态。转运蛋白基因中的多态性可能影响转运蛋白的表达和活性,并助长行为,性状和疾病。确定单胺转运蛋白与复杂的精神疾病之间的关系是不断发展的方法所面临的特殊挑战。阐明多态性位点的功能后果以及它们之间的相互作用正在促进我们对这种关系的理解。考察环境影响的影响,特别是早期事件,帮助弥合了基因型和表型之间的鸿沟。通过评估内表型,特定的行为任务,药物反应和脑网络特性来完善表型,也改善了遗传变异对复杂行为和疾病影响的检测。
更新日期:2019-11-01
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