Recombinant Human Multidrug resistance protein 3 (ABCB4), partial

1. ABCB4 is down-regulated in the 5-Fu resistant cells and knockdown of ABCB4 alleviated the cell apoptosis and predicts a shorter recurrence-free survival and overall survival in colorectal cancer. PMID: 29371412
2. The overrepresentation of mutated variants of the 1331T > C ABCB11 polymorphism in the ICP group suggests its contribution to the etiology of the intrahepatic cholestasis of pregnancy. Analysis of genotypes' co-existence pointed to the possibility of the mutated variants of polymorphism 1954A > G ABCB4 and 1331T > C ABCB11 having a summation effect on the development ofintrahepatic cholestasis of pregnancy PMID: 30091450
3. reduced ABCB4 expression predisposes to extrahepatic biliary atresia PMID: 28355206
4. The functional impact of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3. PMID: 27256251
5. Several members of a family exhibited cholestasis and were found to have a substitution of glycine 68 by arginine in ABCB4 due to a missense mutation at base 202. The 18-year-old propositus was heterozygous for this mutation and also suffered acute pancreatitis. PMID: 26242827
6. ABCB4 variants identified in patients with biliary diseases PMID: 28587926
7. results are suggestive of a potential downstream molecular effect for the described polymorphisms on the expression pattern of the ABCB4 underlining the importance of synonymous variants PMID: 27788395
8. Ivacaftor is a potential therapy for selected patients with cystic fibrosis with mutations of ABCB4. PMID: 28012258
9. Data show that patients with low multidrug resistance protein 3 (MDR3) expression were significantly associated with a better outcome than patients with high MDR3 expression. PMID: 28061436
10. In patients with intrahepatic cholestasis of pregnancy, ABCB4 gene mutation was not associated with response to ursodeoxycholic acid treatment. PMID: 27825922
11. Data suggest that MDR3 isoforms, both human and mouse isoforms, exhibit different affinities for fluorescent dyes and drugs; thus, ligands likely occupy partially overlapping but distinct binding sites. PMID: 28441502
12. Single-nucleotide polymorphism in ABCB4 gene is associated with gallbladder cancer. PMID: 28274756
13. the cholestatic potential of certain drugs may be aggravated by simultaneous inhibition of BSEP and MDR3. PMID: 27112167
14. Negative immunoreaction of MDR3 was found in the majority of the progressive familial intrahepatic cholestasis (PFIC) group. Nonetheless, the negative immunoreaction was demonstrated in a considerable number of the non-PFIC group. Negative MDR3 immunoreaction was more frequently associated with PFIC3 compared to non-PFIC group. PMID: 26845599
15. Exons 6, 8 and 9 mutations of ABCB4 gene are not common among Egyptian children with Progressive Familial Intrahepatic Cholestasis type 3. PMID: 27075526
16. Case Report: novel ABCB4 mutation in mother and daughter with progressive familial intrahepatic cholestasis 3. PMID: 26796082
17. ABCB4 mutation causing progressive familial intrahepatic cholestasis 3 in two brothers, and intrahepatic cholestasis of pregnancy in their mother is described. PMID: 26699824
18. A mutant ABCB4 genotype is related to the clinical expression of cholestatic liver disease. PMID: 26324191
19. There are varying effects of ABCB4 missense mutations but even a modest reduction in MDR3 activity may contribute or predispose to the onset of Cholestatic liver disease in the pediatric age. PMID: 26153658
20. A mutation of ABCB4 protein as a cause of liver disease PMID: 26410236
21. most severe phenotypes appreciated by the duration of transplant-free survival were caused by ABCB4 variants that were markedly retained in the endoplasmic reticulum and expressed in a homozygous status PMID: 26474921
22. Report highly specific expression of BSEP and MDR3 in hepatocellular carcinoma. PMID: 26735860
23. Interaction of ABCB4 with EBP50 through its PDZ-like motif plays a critical role in the regulation of ABCB4 expression and stability at the canalicular plasma membrane. PMID: 26789121
24. Case Report: liver fibrosis associated with MDR3 deficiency can be reversed by long-term treatment with UDCA, at least when there is residual expression of the protein. PMID: 26256905
25. These results suggest that a SM-rich membrane environment is required for ABCB4 to function. PMID: 25601960
26. The exome-sequencing of 3 family members identified 7 potential mutations: of these, rs58238559, a rare missense genetic variant in the ABCB4 gene was carried by all affected members; rs58238559 in ABCB4 is a rare missense variant with a significant effect on the development of atrial flutter or atrial fibrillation. PMID: 25888430
27. variants in the genes ABCB4, TP53AIP1, ARHGAP32 and TMEM88B were identified linked to the alexithymia phenotype. PMID: 25882097
28. ABCB4 is a frequently silenced gene in different cancers and it may act tumor suppressivly in lung cancer. PMID: 25367630
29. Case Report: novel ABCB4 mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3. PMID: 25593501
30. several mutations in ABCB4 increase risk of liver diseases. PMID: 25807286
31. data on the Q1174E mutant demonstrated basal ATPase activity, but PC lipids were incapable of stimulating ATPase activity highlighting the role of the extended X loop in the cross-talk of the nucleotide-binding domain and the transmembrane domain. PMID: 25533467
32. ABCB4 mutations have roles in hormonal cholestasis but not pediatric idiopathic gallstones PMID: 24914347
33. intratumoral expression affected the prognosis of patients with hepatocellular carcinoma PMID: 25173835
34. These data provide experimental evidence of the correlation between the degree of MDR3 floppase activity and the clinical outcomes of PFIC3 PMID: 24594635
35. Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction. PMID: 24045840
36. We identified disease-associated variants of ABCB4 involved in the phosphorylation of its N-terminal domain and leading to decreased phosphatidylcholine secretion. PMID: 24723470
37. The level of ABCB4 functionality correlates with, and is the primary determinant of, cholestatic disease severity in these patients. PMID: 24806754
38. Fenofibrate transactivates MDR3 gene transcription by way of the binding of PPARalpha to three novel and functionally critical response elements in the MDR3 promoter. PMID: 24122873
39. Six single nucleotide polymorphisms in ABCB4 that showed significant evidence of association were identified. PMID: 24366234
40. Case Report: novel ABCB4 mutation in progressive familial intrahepatic cholestasis III. PMID: 23574360
41. ABCB4 located in nonrafts, but not in rafts, is predominantly involved in the efflux of phospholipids and other substrates. PMID: 23468132
42. Genotyping of Italian women revealed 2 novel variants of ABCB4 (p.I587DfsX603, p.I738LfsX744) associated with intrahepatic cholestasis of pregnancy. PMID: 23022423
43. this study suggests that two common haplotypes of MDR3 can regulate the transcriptional rate of MDR3 and that NF-Y may be one of the transcriptional factors involved in this regulation. PMID: 23261441
44. Data indicate that serum glucose levels are associated with a common ABCB4 variant. PMID: 22982378
45. ABCB4/MDR3 gene mutations in cholangiocarcinomas. PMID: 22387667
46. In mainland Chinese children, some cases of chronic intrahepatic cholestasis with high gamma-glutamyl transpeptidase could be attributed to ABCB4 mutations. PMID: 22343912
47. A significant subset of patients with symptomatic cholestasis/cholelithiasis hae underlying ABCB4 deletions. PMID: 21989363
48. Liver lesions previously unreported in association with MDR3/ABCB4 gene mutations PMID: 22331132
49. Patients undergoing partial hepatectomy with low post-operative bilirubin had lower levels of NTCP, MDR3 and BSEP mRNA compared to those with high bilirubin after Pringle manoeuvre. PMID: 22098322
50. LPAC syndrome is based on a mutation in the ABCB4 gene which codes for MDR3 (multidrug resistance protein 3). PMID: 21161147

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HGNC: 45

OMIM: 171060

KEGG: hsa:5244

STRING: 9606.ENSP00000265723

UniGene: Hs.654403