ABCMdb

PMID: 20028269

Stieger B
Role of the bile salt export pump, BSEP, in acquired forms of cholestasis.
Drug Metab Rev. 2010 Aug;42(3):437-45., [PubMed]

Sentences

No. Mutations Sentence Comment

72 ABCB11 p.Glu297Gly Some mutations (e.g., E297G) are found in patients with severe, as well as with benign, BSEP deficiency syndrome (Pauli-Magnus etal., 2005). Login to comment 73 ABCB11 p.Glu297Gly Functional characterization of the E297G variant of BSEP revealed residual transport activity (Noe etal., 2005). Login to comment 78 ABCB11 p.Glu297Gly ABCB11 p.Arg432Thr For example, in a patient with benign recurrent intrahepatic cholestasis type 2, the two compound heterozygous mutations, E297G and R432T, were identified. Login to comment 141 ABCB11 p.Val444Ala ABCB11 p.Met677Val Until now, the nonsynonomous c.1331T>C (p.V444A) in exon 13 and c.2029A>G (p.M677V) in exon 17 have consistently been reported to have frequencies of higher than 0.5% (Saito etal., 2002; Pauli-Magnus etal., 2004; Lang etal., 2006). Login to comment 142 ABCB11 p.Val444Ala Investigation of the expression of four canalicular ABC transporters, including BSEP, in 110 healthy liver samples revealed that the p.V444A variant tended to lower BSEP expression levels (Meier et al., 2006). Login to comment 144 ABCB11 p.Val444Ala Hence, individuals carrying the p.V444A variant could be more prone to acquired cholestais. Login to comment 146 ABCB11 p.Val444Ala These three studies, therefore, suggest that the c.1331T>C (p.V444A) variant of ABCB11 could be a susceptibility factor for acquired cholestasis. Login to comment