ABCB11 p.Ala257Val
| Reviews: |
p.Ala257Gly
D
|
| Predicted by SNAP2: | C: D (59%), D: D (75%), E: D (71%), F: D (59%), G: N (87%), H: D (66%), I: D (59%), K: D (71%), L: D (66%), M: D (53%), N: D (63%), P: D (80%), Q: D (66%), R: D (71%), S: N (57%), T: N (78%), V: D (59%), W: D (80%), Y: D (66%), |
| Predicted by PROVEAN: | C: D, D: D, E: D, F: D, G: N, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: N, T: D, V: D, W: D, Y: D, |
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[hide] Biosynthesis and trafficking of the bile salt expo... Mol Aspects Med. 2014 Jun;37:3-14. doi: 10.1016/j.mam.2013.05.001. Epub 2013 May 15. Soroka CJ, Boyer JL
Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations.
Mol Aspects Med. 2014 Jun;37:3-14. doi: 10.1016/j.mam.2013.05.001. Epub 2013 May 15., [PMID:23685087]
Abstract [show]
The bile salt export pump (BSEP, ABCB11) is the primary transporter of bile acids from the hepatocyte to the biliary system. This rate-limiting step in bile formation is essential to the formation of bile salt dependent bile flow, the enterohepatic circulation of bile acids, and the digestion of dietary fats. Mutations in BSEP are associated with cholestatic diseases such as progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2), drug-induced cholestasis, and intrahepatic cholestasis of pregnancy. Development of clinical therapies for these conditions necessitates a clear understanding of the cell biology of biosynthesis, trafficking, and transcriptional and translational regulation of BSEP. This chapter will focus on the molecular and cell biological aspects of this critical hepatic membrane transporter.
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No. Sentence Comment
207 A preliminary report from the same group finds that 4-PBA decreases pruritus and serum bile acid concentrations, and improves liver function within 3 months of treatment in 3 PFIC2 children harboring a least one missense mutation (A257V, G982R and T1210P) (Gonzales et al., 2012b).
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ABCB11 p.Ala257Val 23685087:207:231
status: NEW