SLC7A7 缺陷导致氨基酸转运异常引起赖氨酸尿蛋白不耐受（LPI）
中文名称
通路描述
SLC7A7 编码 y+LAT1 氨基酸转运蛋白 1。作为与 SLC3A2 在细胞膜上形成的异二聚体，SLC7A7 介导精氨酸（L-Arg）与亮氨酸（L-Leu）以及钠离子（Na+）的交换。精氨酸和亮氨酸的生理浓度预期会促进精氨酸排出（Schweikhard & Ziegler 2012）。SLC7A7 缺陷可导致赖氨酸尿蛋白不耐受（LPI；MIM:222700），这是一种代谢疾病，特征为肠和肾脏上皮细胞基底侧膜上阳离子氨基酸（CAA）转运减少、CAA 肾排泄增加以及鸟氨酸尿。临床表现存在巨大变异性，但典型症状包括拒食、呕吐和发育迟缓。肝脾肿大、血液学异常和神经系统受累是反复出现的临床特征（Sperandeo et al. 2008, Sebastio et al. 2011）。
英文描述
Defective amino acid transport by SLC7A7 causes lysinuric protein intolerance (LPI) SLC7A7 encodes the y+L amino acid transporter 1 (y+LAT1). As a heterodimer with SLC3A2 in the plasma membrane, SLC7A7 mediates the exchange of arginine (L-Arg) for leucine (L-Leu) and a sodium ion (Na+). The physiological concentrations of arginine and leucine are expected to favor arginine export (Schweikhard & Ziegler 2012). Defects in SLC7A7 can cause Lysinuric protein intolerance (LPI; MIM:222700), a metabolic disorder characterised by decreased cationic amino acid (CAA) transport at the basolateral membrane of epithelial cells in the intestine and kidney, increased renal excretion of CAA and orotic aciduria. There is extreme variability clinically but typical symptoms include refusal to feed, vomiting and consequent failure to thrive. Hepatosplenomegaly, hematological anomalies and neurological involvement are recurrent clinical features (Sperandeo et al. 2008, Sebastio et al. 2011).
所含基因
1 个基因