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Zhou, V. ATP8B1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4910 (accessed on 28 September 2026).
Zhou V. ATP8B1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4910. Accessed September 28, 2026.
Zhou, Vicky. "ATP8B1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4910 (accessed September 28, 2026).
Zhou, V. (2020, December 24). ATP8B1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4910
Zhou, Vicky. "ATP8B1 Gene." Encyclopedia. Web. 24 December, 2020.
ATP8B1 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/atp8b1

ATPase phospholipid transporting 8B1

genes

References

  1. Cai SY, Gautam S, Nguyen T, Soroka CJ, Rahner C, Boyer JL. ATP8B1 deficiencydisrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. Gastroenterology. 2009 Mar;136(3):1060-9.doi: 10.1053/j.gastro.2008.10.025.
  2. Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familialintrahepatic cholestasis. Orphanet J Rare Dis. 2009 Jan 8;4:1. doi:10.1186/1750-1172-4-1. Review.
  3. Folmer DE, van der Mark VA, Ho-Mok KS, Oude Elferink RP, Paulusma CC.Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicularlocalization of ATP8B1. Hepatology. 2009 Nov;50(5):1597-605. doi:10.1002/hep.23158.
  4. Jansen PL, Sturm E. Genetic cholestasis, causes and consequences forhepatobiliary transport. Liver Int. 2003 Oct;23(5):315-22. Review.
  5. Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ,Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der BruggeG, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN. Characterization of mutations in ATP8B1 associated withhereditary cholestasis. Hepatology. 2004 Jul;40(1):27-38.
  6. Pauli-Magnus C, Stieger B, Meier Y, Kullak-Ublick GA, Meier PJ. Enterohepatic transport of bile salts and genetics of cholestasis. J Hepatol. 2005Aug;43(2):342-57. Review.
  7. Paulusma CC, de Waart DR, Kunne C, Mok KS, Elferink RP. Activity of the bilesalt export pump (ABCB11) is critically dependent on canalicular membranecholesterol content. J Biol Chem. 2009 Apr 10;284(15):9947-54. doi:10.1074/jbc.M808667200.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vicky Zhou
View Times: 748
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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