| Regulating Pair |
| Introduced Variation |
Mutation (SNP T199M) of SLC6A20 |
Protein Info
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| Induced Change |
Proline concentration: decrease |
Metabo Info
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| Summary |
Introduced Variation
Induced Change
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| Full List of Experiment(s) Validating This Regulating Pair |
| Details of Experiment for Validating This Pair |
[1] |
| Method |
Quantifying the change of L-proline concentration after SLC6A20 mutation (SNP T199M) through C14-labeled amino acids kit detection. |
| Disease Status |
Healthy individual |
| Organ/Tissue/Cell Line |
MDCKII cells (Madin-Darby Canine Kidney cells) |
N.A. |
| Subcellular Location |
Membrane (Apical cell membrane) |
| Tested Species |
Species: Homo sapiens (Click to Show/Hide the Complete Species Lineage)
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
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| Details |
It is reported that mutation (SNP T199M) of SLC6A20 leads to the decrease of proline levels compared with control group in MDCKII cells. |
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| References |
| 1 |
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. J Clin Invest. 2008 Dec;118(12):3881-92.
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