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 ?
Familial intrahepatic cholestasis (FIC) comprises a group of rare cholestatic liver diseases associated with canalicular transport defects resulting predominantly from mutations in ATP8B1, ABCB11 and ABCB4.
A panel of genes included ABCB4, ABCB11 and ATP8B1 genes.
Genetic mutations of ABCB4 may lead to chronic cholestasis, chronic "hepatitis," cryptogenic cirrhosis, intrahepatic lithiasis, gallstones, intrahepatic cholestasis of pregnancy (ICP), or progressive familial intrahepatic cholestasis type 3 (PFIC3), all of which are typically associated with elevated GGTP levels (9).
intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the of the hepato biliary phospholipid transporter ABCB4 gene.
ABCB4 and ABCB11 mutations in intrahepatic cholestasis of pregnancy in an Italian population.
Their function requires significant energy expenditure in the form of adenosine triphosphate (ATP), and most transporters belong to the ATP-binding cassette (ABC) transporter superfamily such as ATP8B1 (ATPase class I type 8B1), ABCB11 (ABC, subfamily B, member 11), and ABCB4 (ABC, subfamily B, member 4), all of which are responsible for 3 types of PFIC, respectively.
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.
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.
Es ocasionada por el defecto del gen ABCB4, que codifica a la proteina MDR3, la clinica neonatal es rara, hay una hepatopatia progresiva a cirrosis, y en el 30% de los casos puede responder al acido ursodeoxicolico.
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.