| Regulating Pair |
| Introduced Variation |
Mutation (S290F) of SLC16A2 |
Protein Info
|
| Induced Change |
Liothyronine concentration: increase (FC = 1.85) |
Metabo Info
|
| Summary |
Introduced Variation
Induced Change
|
|
|
|
|
|
|
|
| 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 (S290F) through kit detection. |
| Disease Status |
Hypothyroidism |
ICD-11: 5A00 |
| Organ/Tissue/Cell Line |
JEG3 cells (Human choriocarcinoma cells) |
Placenta |
| COS-1 cells (Transformed african green monkey kidney fibroblast 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
|
| Details |
It is reported that mutation (S290F) of SLC16A2 leads to the increase of liothyronine levels compared with control group in JEG3 cells and COS-1 cells. |
|
|
|
|
|
|
|
| References |
| 1 |
Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation. PLoS One. 2015 Oct 1;10(10):e0139343.
|
If you find any error in data or bug in web service, please kindly report it to Dr. Zhang and Dr. Mou.
