SLC16A1基因突变因子与药物介绍

这个基因编码的蛋白质是一个质子连接的一元羧酸转运蛋白，它催化许多一元羧酸（如乳酸和丙酮酸）在质膜上的运动该基因突变与红细胞乳酸转运体缺陷有关此外，还发现了该基因的剪接转录变体。[由RefSeq提供，2009年10月]
The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]