Variant SLC6A20 does not cotransport L-Pro, Na+ from extracellulare region to cytosol

Stable Identifier
R-HSA-5660694
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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. 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).

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
Participates
Catalyst Activity

amino acid transmembrane transporter activity of SLC6A20 T199M [plasma membrane]

Normal reaction
Functional status

Partial loss of function of SLC6A20 T199M [plasma membrane]

Status
Disease
Name Identifier Synonyms
amino acid metabolic disorder DOID:9252 inborn errors of amino acid metabolism
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