Regulating Pair |
Introduced Variation |
Mutation (Y117A) of SLC7A5 |
Protein Info
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Induced Change |
Leucine 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 L-leucine concentration after SLC7A5 mutation (Y117A) through 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); Lysosome (Lysosome 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 (Y117A) of SLC7A5 leads to the decrease of leucine levels compared with control group in HEK293 cells. |
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References |
1 |
Structure of the human LAT1-4F2hc heteromeric amino acid transporter complex. Nature. 2019 Apr;568(7750):127-130.
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