ABCB6 Antibody

1. Severely affected porphyria patients harbor variant alleles in the ABCB6 gene. PMID:27507172
2. ABCB6 missense mutations in red blood cells from subjects with familial pseudohyperkalemia show elevated potassium ion efflux. PMID:27151991
3. genetic variants linked to lower or absent cell surface expression of ABCB6/Langereis may be more common than previously thought. PMID:25360778
4. These data indicate that the expression of ABCB6 in plasma membrane is important for porphyrin accumulation after ALA administration, including hypoxic conditions. PMID:25573285
5. Identified two novel ABCB6 mutations in two Chinese families affected with dyschromatosis universalis hereditaria (DUH), underscoring the causative role of the ABCB6 mutations in the molecular pathogenesis of DUH. PMID:25288164
6. Data suggest N-terminal transmembrane domain of ABCB6 functions as independent folding unit and plays crucial role in lysosomal (rather than plasma membrane) targeting of ABCB6; this domain is dispensable for dimerization and ATP binding/hydrolysis. PMID:25627919
7. a heterozygous substitution Arg723Gln in the ATP-binding cassette, Subfamily B, Member 6 protein that segregated with FP in the Cardiff family and was also present in both blood donors. Arg723Gln is listed in human variation databases PMID:24947683
8. Data indicate ATP-binding cassette sub-family B member 6 (ABCB6) as the disease candidate gene by discovering a coding mutation (c.1358C>T; p.Ala453Val) that co-segregates with the dyschromatosis universalis hereditaria phenotype. PMID:24498303
9. Expression of ABCB6 is related to resistance to 5-FU, SN-38 and vincristine. PMID:25202056
10. We describe eight new mutations in ABCB6 of which seven, including three missense mutations, underlie the Lan- phenotype and determine that a complete gene deletion of ABCG2 or ABCB6 is not responsible for the Jr(a-) or Lan- phenotype, respectively. PMID:24456066
11. High expression levels of ABCB6 are associated with glioma. PMID:22688660
12. data add new variants to the repertoire of ABCB6 mutations with dyschromatosis universalis hereditaria. PMID:24224009
13. No significant associations were detected for the ABCB6 or ABCG1 gene. PMID:24192121
14. Data suggest that expression of ABCB6 varies widely in bone marrow and blood samples from patients with acute myeloid leukemia. [LETTER] PMID:23793916
15. To date, 19 ABCB6 alleles that encode Lan- or Lan+(w) /-, or Lan+(w) phenotypes have been described. PMID:23763549
16. p.Arg192Trp is the first ABCB6 missense mutation causing the Lan- blood type and appears to be a relatively frequent cause of this rare blood type. PMID:22958180
17. Aberrant mRNA and DNA methylation levels of ABCB6 may serve as useful predictive biomarkers for early intrahepatic recurrence of HCV-related hepatocellular carcinoma PMID:23483087
18. These findings suggest that ABCB6 may be a physiological factor for skin pigmentation. PMID:23519333
19. results suggest a direct interaction between mitochondrial ABCB6 and its transport substrates that is critical for the activity of the transporter PMID:23792964
20. the two missense mutations in residue 375 of the ABCB6 polypeptide found in affected individuals of families with chromosome 2-linked FP could contribute to the red cell K(+) leak characteristic of this condition. PMID:23180570
21. Polycyclic aromatic hydrocarbons (PAHs) mediate transcriptional activation of the ATP binding cassette transporter ABCB6 gene via the aryl hydrocarbon receptor (AhR) PMID:22761424
22. Knock-down studies demonstrate that ABCB6 function is not required for de novo heme biosynthesis in differentiating K562 cells, excluding this ABC transporter as a key regulator of porphyrin synthesis. PMID:22655043
23. ABCB6 plays a role in cell growth and proliferation by targeting the cell cycle. PMID:21849266
24. It was established that ABCB6 encodes a new blood group system (Langereis, Lan). Targeted sequencing of ABCB6 in 12 unrelated individuals of the Lan(-) blood type identified 10 different ABCB6 null mutations. PMID:22246506
25. The results demonstrated that ABCB6 mutations cause ocular coloboma. PMID:22226084
26. Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8. PMID:21199866
27. overall structure of ABCB6 is L-shaped and consists of two lobes, consistent with other reported nucleotide-binding domain structures PMID:20823549
28. study of C-terminal nucleotide-binding domain of ABCB6 in nucleotide-free & ADP-bound states by NMR & homology modelling; results revealed localised dynamic cooperativity, which was proposed for a prokaryotic ABC MJ1267, also exists in a eukaryotic ABC PMID:16791740
29. ABCB6 is uniquely located in the outer mitochondrial membrane and is required for mitochondrial porphyrin uptake PMID:17006453
30. ABCB6 exists in two molecular weight forms, is localized to both the outer mitochondrial membrane and the plasma membrane, and plays a functional role in the plasma membrane. PMID:17661442
31. ather, it localized in the ER-derived and brefeldin A-sensitive perinuclear compartments, mainly in the Golgi apparatus. PMID:18279659

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HGNC: 47

UNIGENE: Hs.107911

KEGG: hsa:10058

STRING: 9606.ENSP00000265316

OMIM: 111600