ABCB4


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ABCB4

A gene on chromosome 7q21.1 that encodes a membrane-associated protein of the superfamily of ATP-binding cassette (ABC) transporters, MDR/TAP subfamily, which is involved in multi-drug resistance and antigen presentation. ABCB4 encodes a transporter and member of the p-glycoprotein family of membrane proteins, which may be involved in transport of phospholipids from hepatocytes into bile.
References in periodicals archive ?
High responders carry a mutated ABCB4 gene, which affects their ability to secrete excess cholesterol from the liver into bile which, in turn, transports the cholesterol to the intestines for excretion from the body.
MDR-3 genindeki ABCB4 mutasyonuna bagli gelisen ilerleyici ailevi karaciger ici kolestaz-3'de (PFIC-3) kanalikuler fosfolipit tasinmasi bozulmustur.
A missense mutation in ABCB4 gene involved in progressiv familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.
This led to the discovery that the ABCB4 gene, which encodes a protein known to transport fats from the liver into bile to facilitate excretion of cholesterol from the body, is defective in the high responders.
Malfunction of the ABCB4 protein was found to impair cholesterol excretion, causing bad cholesterol to accumulate in the blood when a high-cholesterol diet is consumed.
This is the first report to show that ABCB4 has a role in controlling blood cholesterol levels in response to dietary cholesterol in an animal model," said VandeBerg.
Furthermore, the molecular etiology of intrahepatic cholestasis may involve mutations in ATPSB1 (PFIC1), ABCB11 (PFIC2), or ABCB4 [PFIC3; ATP-binding cassette, sub-family B (MDR/ TAP), member 4].
ABCA3 in the lung, ABCB4 and ABCB11 in the liver and the testis, and ABCG5 and ABCG8 in the liver and the gut.
This is especially true for ABCA2 in the brain, for ABCA3 in the lung, ABCB4 in the liver, ABCBu in the liver and the testis, and ABCG5 and ABCG8 in the liver and the small intestine.