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Details on Person The bile salt export pump ABCB11 mediates the release of bil...
| Class:Id | Summation:5678507 |
|---|---|
| _displayName | The bile salt export pump ABCB11 mediates the release of bil... |
| _timestamp | 2015-04-28 08:53:14 |
| created | [InstanceEdit:5678514] Jassal, Bijay, 2015-02-24 |
| modified | [InstanceEdit:5690295] Jassal, Bijay, 2015-04-28 |
| text | The bile salt export pump ABCB11 mediates the release of bile salts from liver cells into bile. Defects in ABCB11 can cause two clinically distinct forms of cholestasis; progressive familial intrahepatic cholestasis 2 (PFIC2; MIM:601847) and benign recurrent intrahepatic cholestasis 2 (BRIC2; MIM:605479). Cholestasis is characterized by the retention of bile acids or salts. Bile acids can damage hepatocytes and bile duct cells leading to inflammation, fibrosis, cirrhosis and eventually carcinogenesis. Mutations causing PFIC2 include R575* and R1057* (Noe et al. 2005). Mutations causing BRIC2 include E297G and R432T (Strautnieks et al. 1998). |
| (summation) | [FailedReaction:5678517] Defective ABCB11 does not transport bile salts from cytosol to extracellular region [Homo sapiens] |
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