Details of Experiment

Regulating Pair
Introduced Variation	Mutation (L14A, L15A, L318A, V319A) of SLC15A4	Protein Info
Induced Change	Carnosine concentration: increase (FC = 2 - 4)	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 carnosine concentration after SLC15A4 mutation (L14A, L15A;L318A, V319A) through HPLC-MS/MS based metabolomics.
Disease Status	Healthy individual
Organ/Tissue/Cell Line	MDCK cells (Madin-Darby Canine Kidney cells)	Kidney
Subcellular Location	Lysosome (Lysosome membrane); Endosome (Early endosome 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 (L14A and L15A or L318A and V319A) of SLC15A4 leads to the increase of carnosine levels compared with control group in MDCK cells.

References
1	Functional Characterization of Human Peptide/Histidine Transporter 1 in Stably Transfected MDCK Cells. Mol Pharm. 2018 Feb 5;15(2):385-393.

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