| Regulating Pair |
| Introduced Variation |
Mutation (p.I395del) of SLC1A1 |
Protein Info
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| Induced Change |
Cysteine 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-cysteine concentration after SLC1A1 mutation (p.I395del) through 3H-labeled amino acids kit detection. |
| Disease Status |
Nephropathic cystinosis |
ICD-11: 5C60 |
| Organ/Tissue/Cell Line |
Xenopus laevis oocytes |
N.A. |
| Subcellular Location |
Membrane (Cell membrane; Apical cell membrane); Cell junction (Synaptosome); 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
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| Details |
It is reported that mutation (p.I395del) of SLC1A1 leads to the decrease of cysteine levels compared with control group in xenopus laevis oocytes. |
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| References |
| 1 |
Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria. J Clin Invest. 2011 Jan;121(1):446-53.
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