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).
Schweikhard, ES, Ziegler, CM
Bailey, CG, Vanslambrouck, JM, Bröer, A, Ng, C, Rasko, JE, Kowalczuk, S, Cavanaugh, JA, Auray-Blais, C, Rodgers, H, Broer, S
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