Defective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol

Stable Identifier
R-HSA-5653850
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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. A defect in SLC36A2 can cause iminoglycinuria (IG; MIM:242600), an autosomal recessive abnormality of renal transport of glycine and the imino acids proline and hydroxyproline. A mutation causing IG is G87V (Broer et al. 2008). Another defect (V56*) can 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
Participants
Participates
Catalyst Activity

amino acid transmembrane transporter activity of SLC36A2 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC36A2 mutants [plasma membrane]

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