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

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R-HSA-5619041
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Homo sapiens
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Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)
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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 (Schweikhard & Ziegler 2012). 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 (Broer et al. 2008). Polymorphisms in the modifiers SLC6A18, 19 and 20, contribute to these phenotypes.

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  (2014-08-22)
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