Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)

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. Defects in SLC36A2 can cause iminoglycinuria (IG; MIM:242600), an autosomal recessive abnormality of renal transport of glycine and the imino acids proline and hydroxyproline. Defects can also cause hyperglycinuria (HG; MIM:138500), a related disorder to IG which is characterised by excess glycine in the urine. Polymorphisms in the modifiers SLC6A18, 19 and 20, contribute to these phenotypes.

Summary from Reactome (R-HSA-5619041), read 2026-09-23.