| Regulating Pair |
| Introduced Variation |
Mutation (G407S) of SLC16A12 |
Protein Info
|
| Induced Change |
Creatine concentration: decrease (FC = 0.57) |
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 creatine concentration after SLC16A12 mutation (G407S) through C14-labeled amino acids kit detection. |
| Disease Status |
Healthy individual |
| Organ/Tissue/Cell Line |
Xenopus laevis oocytes |
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
|
| Details |
It is reported that mutation (G407S) of SLC16A12 leads to the decrease of creatine levels compared with control group in xenopus laevis oocytes. |
|
|
|
|
|
|
|
| References |
| 1 |
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. Hum Mol Genet. 2013 Aug 15;22(16):3218-26.
|
If you find any error in data or bug in web service, please kindly report it to Dr. Zhang and Dr. Mou.
