Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria

SLC6A18 encodes a neutral amino acid transporter B(0)AT3 which has preference for the amino acid glycine. It is abundantly expressed in the kidney, specifically the S2/3 segments of the kidney proximal tubule (Broer & Gether 2012, Schweikhard & Ziegler 2012). Iminoglycinuria (IG; MIM:242600) or hyperglycinuria (HG; MIM:138500) can arise from defects in SLC36A2, encoding a proton-coupled amino acid transporter 2 (PAT2), a high-affinity cotransporter of glycine and proline. Mutation in SLC6A18 may contribute to both IG and HG (Broer et al. 2008).

SLC6A18 编码一种中性氨基酸转运蛋白 B(0)AT3，该转运蛋白对甘氨酸具有偏好性。其在肾脏中广泛表达，尤其是在肾脏近端小管的 S2/3 段（Broer & Gether 2012，Schweikhard & Ziegler 2012）。由于 SLC36A2（编码质子偶联氨基酸转运蛋白 2，PAT2，甘氨酸和脯氨酸的高亲和力共转运蛋白）功能缺陷，可能引发甘氨酸尿症（IG；MIM:242600）或高甘氨酸尿症（HG；MIM:138500）。SLC6A18 的突变可能同时导致 IG 和 HG（Broer et al. 2008）。