| Regulating Pair |
| Introduced Variation |
Mutation (ABCB4-K435M; ABCB4-K1075M) of ABCB4 |
Protein Info
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| Induced Change |
Cholesterol concentration: increase |
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 cholesterol concentration after ABCB4 mutation (ABCB4-K435M; ABCB4-K1075M) through kit detection. |
| Disease Status |
Healthy individual |
| Organ/Tissue/Cell Line |
HEK293 cells (Human embryonic kidney cells) |
Kidney |
| Subcellular Location |
Membrane (Cell membrane; Apical cell membrane; Membrane raft) Cytoplasm (Cytoplasmic vesicle; Clathrin-coated vesicle) |
| 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 (ABCB4-K435M or ABCB4-K1075M) of ABCB4 leads to the increase of cholesterol levels compared with control group in HEK293 cells. |
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| References |
| 1 |
Bile salt-dependent efflux of cellular phospholipids mediated by ATP binding cassette protein B4. Hepatology. 2007 Jul;46(1):188-99.
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