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Severely affected porphyria patients harbor variant alleles in the ABCB6 gene.
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ABCB6 missense mutations in red blood cells from subjects with familial pseudohyperkalemia show elevated potassium ion efflux.
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genetic variants linked to lower or absent cell surface expression of ABCB6/Langereis may be more common than previously thought.
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These data indicate that the expression of ABCB6 in plasma membrane is important for porphyrin accumulation after ALA administration, including hypoxic conditions.
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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.
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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.
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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
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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.
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Expression of ABCB6 is related to resistance to 5-FU, SN-38 and vincristine.
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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.
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High expression levels of ABCB6 are associated with glioma.
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data add new variants to the repertoire of ABCB6 mutations with dyschromatosis universalis hereditaria.
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No significant associations were detected for the ABCB6 or ABCG1 gene.
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Data suggest that expression of ABCB6 varies widely in bone marrow and blood samples from patients with acute myeloid leukemia. [LETTER]
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To date, 19 ABCB6 alleles that encode Lan- or Lan+(w) /-, or Lan+(w) phenotypes have been described.
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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.
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Aberrant mRNA and DNA methylation levels of ABCB6 may serve as useful predictive biomarkers for early intrahepatic recurrence of HCV-related hepatocellular carcinoma
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These findings suggest that ABCB6 may be a physiological factor for skin pigmentation.
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results suggest a direct interaction between mitochondrial ABCB6 and its transport substrates that is critical for the activity of the transporter
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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.
