| Regulating Pair |
| Introduced Variation |
Mutation (G180R) of ABCC11 |
Protein Info
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| Induced Change |
Dehydroepiandrosterone concentration: decrease |
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 dehydroepiandrosterone concentration after ABCC11 mutation (G180R) through 3H-labeled amino acids kit detection. |
| Disease Status |
Healthy individual |
| Organ/Tissue/Cell Line |
HEK293 cells (Human embryonic kidney cells) |
Kidney |
| Subcellular Location |
Membrane (Cell membrane; Apical cell membrane); Vacuole (Vacuole membrane); Cytoplasm (Cytoplasmic vesicle 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 (G180R) of ABCC11 leads to the decrease of dehydroepiandrosterone levels compared with control group in HEK293 cells. |
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| References |
| 1 |
Functional characterization of common protein variants in the efflux transporter ABCC11 and identification of T546M as functionally damaging variant. Pharmacogenomics J. 2016 Apr;16(2):193-201.
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