| Regulating Pair |
| Introduced Variation |
Mutation (Gly286Asp) of SLC2A1 |
Protein Info
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| Induced Change |
Glucose concentration: decrease (FC = 0.50) |
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 D-glucose concentration after SLC2A1 mutation (Gly286Asp) through kit detection. |
| Disease Status |
Hereditary haemolytic anaemia |
ICD-11: 3A10 |
| Organ/Tissue/Cell Line |
Xenopus laevis oocytes |
N.A. |
| Subcellular Location |
Membrane (Cell 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
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| Details |
It is reported that mutation (Gly286Asp) of SLC2A1 leads to the decrease of glucose levels compared with control group in xenopus laevis oocytes. |
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| References |
| 1 |
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. Blood. 2011 Nov 10;118(19):5267-77.
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