ABCMdb

PMID: 10355502

Kamisako T, Gabazza EC, Ishihara T, Adachi Y
Molecular aspects of organic compound transport across the plasma membrane of hepatocytes.
J Gastroenterol Hepatol. 1999 May;14(5):405-12., [PubMed]

Sentences

No. Mutations Sentence Comment

72 ABCC2 p.Arg768Trp ABCC2 p.Arg768Trp ABCC2 p.Arg1066* Studies carried out using antibodies raised against the C-terminal of MRP2 failed to demonstrate the presence of MRP2 in the canalicular membrane of a patient with Dubin-Johnson syndrome, suggesting that the lack of MRP2 is the cause of this syndrome.46 Recently, various gene abnormalities have been reported in a patient with Dubin-Johnson syndrome: a R768W, R1066X and splicing abnormality (1669del147) each in a homozygote, and a compound heterozygote with R768W and 2272del168.50,51 Bile acid transport In the early 1980s, potential-dependent transport in the canalicular membrane was reported to be involved in bile acid excretion from hepatocytes into bile.52 However,the physiological membrane potential (-35--40 mV) in hepatocytes is not high enough to create a concentration gradient between blood and bile (100-1000-fold difference required). Login to comment 88 ABCB4 p.Arg957* Recently, a MDR3 gene abnormality has been reported in PFIC3 (7 b.p. deletion starting at codon 132 (frameshift mutation and subsequent introduction of a stop codon) and R957X).73 It has been recently reported that simvastatin induced marked overexpression of mdr274 and, recently, we reported that this drug improves cholestasis in patients with primary biliary cirrhosis.75 These findings suggest that simvastatin may constitute a potential therapeutic agent for certain types of cholestasis with plasma phospholipid retention. Login to comment