Defective SLC6A18 does not transport Gly from extracellular region to cytosol

Stable Identifier
R-HSA-5659755
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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SLC6A18 encodes a neutral amino acid transporter B(0)AT3 which has preference for the amino acid glycine. It is abundantly expressed in the kidney, specifically the S2/3 segments of the kidney proximal tubule. Iminoglycinuria (IG; MIM:242600) or hyperglycinuria (HG; MIM:138500) can arise from defects in SLC36A2, encoding a proton-coupled amino acid transporter 2 (PAT2), a high-affinity cotransporter of glycine and proline. Mutations in SLC6A18 may contribute to both IG and HG. Although SLC6A18 could not be functionally expressed in heterologous systems, surface expression of mutants G79S and G496R in oocytes was abrogated, suggesting loss of functionality (Broer et al. 2008).

Literature References
PubMed ID Title Journal Year
19033659 Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters

Broer, S, Bailey, CG, Kowalczuk, S, Ng, C, Vanslambrouck, JM, Rodgers, H, Auray-Blais, C, Cavanaugh, JA, Bröer, A, Rasko, JE

J. Clin. Invest. 2008
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
amino acid transmembrane transporter activity of SLC6A18 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
amino acid metabolic disorder 9252 inborn errors of amino acid metabolism
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