Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria

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R-HSA-5659729
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Homo sapiens
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Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
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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 (Broer & Gether 2012, Schweikhard & Ziegler 2012). 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. Mutation in SLC6A18 may contribute to both IG and HG (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
23177982 Amino acid secondary transporters: toward a common transport mechanism

Schweikhard, ES, Ziegler, CM

Curr Top Membr 2012
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Disease
Name Identifier Synonyms
amino acid metabolic disorder DOID:9252 inborn errors of amino acid metabolism
Authored
Jassal, B  (2014-08-22)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-12-23)
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