Reaction: Variant SLC6A20 does not cotransport L-Pro, Na+ from extracellulare region to cytosol
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. 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).
Reaction - small molecule participants:
L-Pro [extracellular region]
Na+ [extracellular region]
L-Pro [extracellular region]
Na+ [extracellular region]
Reactome.org reaction link: R-HSA-5660694
======
Reaction input - small molecules:
L-proline zwitterion
sodium(1+)
L-proline zwitterion
sodium(1+)
Reaction output - small molecules:
Reactome.org link: R-HSA-5660694