SLC36A2 encodes proton-coupled amino acid transporter 2 (PAT2), a high-affinity cotransporter of glycine and proline coupled with the uptake of a proton in kidney and muscles. A defect in SLC36A2 can cause iminoglycinuria (IG; MIM:242600), an autosomal recessive abnormality of renal transport of glycine and the imino acids proline and hydroxyproline. A mutation causing IG is G87V (Broer et al. 2008). Another defect (V56*) can cause hyperglycinuria (HG; MIM:138500), a related disorder to IG which is characterised by excess glycine in the urine (Broer et al. 2008). Polymorphisms in the modifiers SLC6A18, 19 and 20, contribute to these phenotypes.
Bailey, CG, Vanslambrouck, JM, Bröer, A, Ng, C, Rasko, JE, Kowalczuk, S, Cavanaugh, JA, Auray-Blais, C, Rodgers, H, Broer, S
amino acid transmembrane transporter activity of SLC36A2 mutants [plasma membrane]
Loss of function of SLC36A2 mutants [plasma membrane]
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