| Regulating Pair |
| Introduced Variation |
Overexpression of SLC19A2 |
Protein Info
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| Induced Change |
Thiamine concentration: increase (FC = 5) |
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 thiamine concentration after SLC19A2 overexpression through [3H]labeled amino acids kit detection. |
| Disease Status |
TRMA syndrome |
ICD-11: 5C63 |
| Organ/Tissue/Cell Line |
HEK293 cells (Human embryonic kidney cells) |
Kidney |
| Subcellular Location |
Membrane (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 overexpression of SLC19A2 leads to the increase of thiamine levels compared with control group in HEK293 cells. |
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| References |
| 1 |
The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat Genet. 1999 Jul;22(3):305-8.
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