SLC6A20 encodes the sodium- and chloride-dependent transporter SIT1 and mediates the sodium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids and glycine (Broer & Gether 2012, Schweikhard & Ziegler 2012). The human protein is expressed in the intestine and kidney. A common SNP in the SLC6A20 gene, a 596C-T transition that results in a thr199-to-met (T199M) substitution can contribute towards iminoglycinuria (IG; MIM:242600) or hyperglycinuria (HG; MIM:138500) (Broer et al. 2008). Overall, mutations in SLC36A2 together with polymorphisms in the modifiers SLC6A20, SLC6A18, and SLC6A19 constitute the genetic basis for these phenotypes.
Gether, U, Broer, S
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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