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
extracellular region, plasma membrane
ReviewStatus
5/5
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Variant SLC6A20 does not cotransport L-Pro, Na+ from extracellulare region to cytosol
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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

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

J. Clin. Invest. 2008
Participants
Input
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as an event of
Catalyst Activity

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

Physical Entity
SLC6A20 T199M [plasma membrane] (Homo sapiens)
Activity
amino acid transmembrane transporter activity (GO:0015171)
Normal reaction
SLC6A20 cotransports L-Pro, Na+ from the extracellular region to cytosol (Homo sapiens)
Functional status

Partial loss of function of SLC6A20 T199M [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
amino acid metabolic disorder DOID:9252 inborn errors of amino acid metabolism
Authored
Jassal, B  (2015-01-06)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2015-01-06)
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