| Regulating Pair |
| Introduced Variation |
Mutation (K136E) of SLC17A5 |
Protein Info
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| Induced Change |
Aspartic acid 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-aspartic acid concentration after SLC17A5 mutation (K136E) through SDS-PAGE of the proteoliposomes. |
| Disease Status |
Lysosomal storage diseases |
ICD-11: 5C56 |
| Subcellular Location |
Membrane (Cell membrane); Cytoplasm (Cytoplasmic vesicle; Secretory vesicle; Synaptic vesicle 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 (K136E) of SLC17A5 leads to the decrease of aspartic acid levels compared with control group. |
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| References |
| 1 |
Functional characterization of vesicular excitatory amino acid transport by human sialin. J Neurochem. 2011 Oct;119(1):1-5.
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