| Regulating Pair |
| Introduced Variation |
Mutation (L223M) of SLC7A9 |
Protein Info
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| Induced Change |
Cystine 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-cystine concentration after SLC7A9 mutation (L223M) through 14C-labeled amino acids kit detection. |
| Disease Status |
Nephropathic cystinosis |
ICD-11: 5C60 |
| Organ/Tissue/Cell Line |
COS-7 cells (Transformed african green monkey kidney fibroblast cells) |
N.A. |
| Subcellular Location |
Membrane (Apical cell 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 (L223M) of SLC7A9 leads to the decrease of cystine levels compared with control group in COS-7 cells. |
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| References |
| 1 |
A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter. Kidney Int. 2006 Apr;69(7):1198-206.
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