SLC7A9 氨基酸转运缺陷导致胱氨酸尿症
中文名称
通路描述
SLC7A9 编码 b(0,+)-型氨基酸转运蛋白 1 BAT1。作为与 SLC3A1 在细胞膜上形成的异二聚体，SLC7A9 介导了胱氨酸（CySS-，L-半胱氨酸的氧化形式）和双基氨基酸的高亲和力、钠非依赖性交换，并负责肾小管中 CySS-和双基氨基酸的重吸收。SLC7A9（或 SLC3A1）的缺陷可导致胱氨酸尿症（CSNU，MIM:220100），这是一种常染色体隐性遗传病，其特征是肾小管对胱氨酸和双基氨基酸的重吸收受损。胱氨酸的低溶解度导致泌尿道中形成结石，引起梗阻性尿路疾病、肾盂肾炎，罕见地导致肾衰竭（Palacin et al. 2001, Mattoo & Goldfarb 2008, Fotiadis et al. 2013, Saravakos et al. 2014, Barbosa et al. 2012）。胱氨酸尿症分为亚型 A（突变位于 SLC3A1）和亚型 B（突变位于 SLC7A9）。
英文描述
Defective amino acid transport by SLC7A9 causes cystinuria (CSNU) SLC7A9 encodes the b(0,+)-type amino acid transporter 1 BAT1. As a heterodimer with SLC3A1 in the plasma membrane, SLC7A9 mediates the high-affinity, sodium-independent transport of cystine (CySS-, the oxidised form of L-cysteine) and dibasic amino acids in exchange for neutral amino acids and is thought to be responsible for the reabsorption of CySS- and dibasic amino acids in the kidney tubule (Schweikhard & Ziegler 2012). Defects in SLC7A9 (or SLC3A1) can cause cystinuria (CSNU; MIM:220100), an autosomal disorder characterised by impaired renal reabsorption of cystine and dibasic amino acids. The low solubility of cystine causes the formation of calculi in the urinary tract resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (Palacin et al. 2001, Mattoo & Goldfarb 2008, Fotiadis et al. 2013, Saravakos et al. 2014, Barbosa et al. 2012). Cystinuria is subcategorised as type A (mutations on SLC3A1) and type B (mutations on SLC7A9).
所含基因
1 个基因