Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)

Stable Identifier
R-HSA-5660686
Type
Pathway
Species
Homo sapiens
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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 (Broer & Gether 2012, Schweikhard & Ziegler 2012). 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). Overall, mutations in SLC36A2 together with polymorphisms in the modifiers SLC6A20, SLC6A18, and SLC6A19 constitute the genetic basis for these phenotypes.

Literature References
PubMed ID Title Journal Year
23177982 Amino acid secondary transporters: toward a common transport mechanism

Schweikhard, ES, Ziegler, CM

Curr Top Membr 2012
22519513 The solute carrier 6 family of transporters

Broer, S, Gether, U

Br. J. Pharmacol. 2012
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
Disease
Name Identifier Synonyms
amino acid metabolic disorder 9252 inborn errors of amino acid metabolism
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