Reaction: Defective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol
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.
Reaction - small molecule participants:
H+ [extracellular region]
Reactome.org reaction link: R-HSA-5653850
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Reaction input - small molecules:
hydron
Reaction output - small molecules:
Reactome.org link: R-HSA-5653850