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Details on Person SLC36A2 encodes proton-coupled amino acid transporter 2 (PAT...
| Class:Id | Summation:5653858 |
|---|---|
| _displayName | SLC36A2 encodes proton-coupled amino acid transporter 2 (PAT... |
| _timestamp | 2014-12-23 13:39:11 |
| created | [InstanceEdit:5653857] Jassal, Bijay, 2014-12-02 |
| modified | [InstanceEdit:5654127] Jassal, Bijay, 2014-12-03 [InstanceEdit:5659745] Jassal, Bijay, 2014-12-23 |
| text | 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. |
| (summation) | [FailedReaction:5653850] Defective SLC36A2 does not cotransport Gly, L-Pro with H+ from extracellular region to cytosol [Homo sapiens] |
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No pathways have been reviewed or authored by SLC36A2 encodes proton-coupled amino acid transporter 2 (PAT... (5653858)
