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Severely affected porphyria patients harbor variant alleles in the ABCB6 gene.
ABCB6 missense mutations in red blood cells from subjects with familial pseudohyperkalemia show elevated potassium ion efflux.
genetic variants linked to lower or absent cell surface expression of ABCB6/Langereis may be more common than previously thought.
These data indicate that the expression of ABCB6 in plasma membrane is important for porphyrin accumulation after ALA administration, including hypoxic conditions.
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.
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.
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
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.
Expression of ABCB6 is related to resistance to 5-FU, SN-38 and vincristine.
We describe eight new mutations in ABCB6 of which seven, including three missense mutations, underlie the Lan (show DGS2 Proteins)- phenotype and determine that a complete gene deletion of ABCG2 or ABCB6 is not responsible for the Jr(a-) or Lan (show DGS2 Proteins)- phenotype, respectively.
homozygous disruption of the Abcb6 gene in mice exacerbates porphyria phenotypes in the mouse model.
liver extracts from Abcb6-deficient mice suppress P450 (show POR Proteins) expression in human primary hepatocytes, suggest that this mouse model may provide an opportunity to understand the physiological signals and the mechanisms involved in negative regulation of P450s
Identify a new role of ABCB6 in preventing atherosclerosis development by dampening platelet production, reactivity, and chemokine (C-C motif) ligand 5 (show CCL5 Proteins) deposition in atherosclerotic lesions.
Polycyclic aromatic hydrocarbons (PAHs) mediate transcriptional activation of the ATP binding cassette transporter (show ABCC3 Proteins) ABCB6 gene via the aryl hydrocarbon receptor (AhR (show AHR Proteins))
Abcb6 is the sole ATP-dependent porphyrin importer, and loss of Abcb6 produces up-regulation of heme and iron pathways necessary for normal development.
Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC) transporters ABCB6 and sulfonylurea receptor 1 (SUR1)/ABCC8 (show ABCC8 Proteins).
ABCB6 is uniquely located in the outer mitochondrial membrane and is required for mitochondrial porphyrin uptake
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function.
ATP-binding cassette, sub-family B (MDR/TAP), member 6
, ATP-binding cassette sub-family B member 6, mitochondrial
, ATP-binding cassette, sub-family B, member 6
, ATP-binding cassette sub-family B member 6, mitochondrial-like
, ATP-binding cassette half-transporter
, P-glycoprotein-related protein
, mitochondrial ABC transporter 3
, mt-ABC transporter 3
, ubiquitously-expressed mammalian ABC half transporter
, ATG9 autophagy related 9 homolog A