ABCMdb

PMID: 19684528

Stieger B
Recent insights into the function and regulation of the bile salt export pump (ABCB11).
Curr Opin Lipidol. 2009 Jun;20(3):176-81., [PubMed]

Sentences

No. Mutations Sentence Comment

36 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly This study [13 ] also revealed that the common E297G and D482G mutant forms of BSEP varied most in their expression level between patients. Login to comment 37 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly This is of interest, as E297G and D482G have been shown to display residual [14] and normal [15] transport activity, respectively. Login to comment 41 ABCB11 p.Asp482Gly Of note, the mutant D482G, which is common in Europe, displayed enhancement of aberrant splicing. Login to comment 42 ABCB11 p.Asp482Gly This provides a possible explanation for the wide variation of BSEP expression found in patients with D482G mutations leading to clinical phenotypes with variable severity. Login to comment 52 ABCB11 p.Val444Ala ABCB11 p.Met677Val To date, c.1331T>C (p.V444A) in exon 13 and c.2029A>G (p.M677V) in exon 17 of the BSEP gene are two nonsynonymous SNPs, which have consistently been observed with frequencies of higher than 0.5% [8,30-32] in different cohorts. Login to comment 54 ABCB11 p.Val444Ala Interestingly, individuals carrying the p.V444A variant tended towards lower BSEP expression levels and all of the 17% of the 110 individuals having low or very low BSEP expression levels were carrying at least one c.1331T>C allele. Login to comment 56 ABCB11 p.Val444Ala Individuals carrying the p.V444A variant could be at a higher risk for developing acquired BSEP deficiency syndromes. Login to comment 76 ABCB11 p.Asp482Gly Interestingly, the D482G mutation was found to exhibit decreased transport activity in this study, but after being cloned into mouse Bsep it displayed normal function [48]. Login to comment 81 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly Interestingly, it was demonstrated that levels of the E297G and the D482G mutants of BSEP could be increased at the plasma membrane, if cells were treated with 4-phenylbutyrate [53 ]. Login to comment