Regulating Pair
       Introduced Variation Mutation (R183K) of SLC3A2 Protein Info
       Induced Change Leucine 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 L-leucine concentration after SLC3A2 mutation (R183K) 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); Cell junction; Lysosome (Lysosome membrane); Melanosome
       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 (R183K) of SLC3A2 leads to the decrease of leucine levels compared with control group in HEK293 cells.
References
1 Structure of the human LAT1-4F2hc heteromeric amino acid transporter complex. Nature. 2019 Apr;568(7750):127-130.

If you find any error in data or bug in web service, please kindly report it to Dr. Zhang and Dr. Mou.