| Regulating Pair |
| Introduced Variation |
Mutation (InsV236) of SLC16A2 |
Protein Info
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| Induced Change |
Liothyronine concentration: increase (FC = 1.2) |
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 liothyronine concentration after SLC16A2 mutation (InsV236) through kit detection. |
| Disease Status |
Hypothyroidism |
ICD-11: 5A00 |
| Organ/Tissue/Cell Line |
COS-1 cells (Transformed african green monkey kidney fibroblast cells) |
N.A. |
| 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 mutation (InsV236) of SLC16A2 leads to the increase of liothyronine levels compared with control group in COS-1 cells. |
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| References |
| 1 |
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution. Mol Endocrinol. 2013 May;27(5):801-13.
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