| Regulating Pair |
| Introduced Variation |
Mutation (D326E) of SLC29A4 |
Protein Info
|
| Induced Change |
Thiamine concentration: decrease |
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 thiamine concentration after SLC29A4 mutation (D326E) through confocal fluorescence microscopy assay. |
| Disease Status |
Asperger syndrome |
ICD-11: 6A02 |
| Organ/Tissue/Cell Line |
MDCK cells (Madin-Darby canine kidney cells) |
Kidney |
| Subcellular Location |
Membrane (Cell 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
|
| Details |
It is reported that mutation (D326E) of SLC29A4 leads to the decrease of thiamine levels compared with control group in MDCK cells. |
|
|
|
|
|
|
|
| References |
| 1 |
Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene. Mol Autism. 2014 Aug 13;5:43.
|
If you find any error in data or bug in web service, please kindly report it to Dr. Zhang and Dr. Mou.
