ABCC6

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ABCC6

ATP-binding cassette sub-family C (CFTR/MRP) member 6. A gene on 16p13.1 that encodes a protein of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intra-cellular membranes.

Significance
The encoded protein is involved in multi-drug resistance; mutations in ABCC6 cause pseudoxanthoma elasticum.
References in periodicals archive ?
PXE should be considered for patients with the fundoscopic finding of angioid streaks.
The genotypes of the genes we have investigated may serve as predictors of disease onset and may prove useful for building risk profiles for PXE patients and yet unaffected relatives.
Acknowledgments: We are grateful to all the PXE patients and their relatives, whose cooperation made this study possible.
3] Nonstandard abbreviations: PXE, pseudoxanthoma elasticum; MRP, multidrug resistance-associated protein; ROS, reactive oxygen species.
Comparison of haplotype block frequencies among PXE patients and controls showed a decreased frequency of the major haplotype A (Table 3) in the PXE group ([P.
We repeated analysis using the PHASE algorithm to compare haplotype patterns in PXE patients and controls.
Allelic frequencies of the 3 SPP1 promoter variants were analyzed in subgroups of the PXE patient groups to evaluate an association with the clinical features shown in Table 1.
3421C>T mutation in PXE patients and their relatives as we have described previously (13, 32).
Serum fetuin-A in PXE patients was significantly lower than in the relatives and the controls (P <0.
We also determined serum calcium and inorganic phosphorus in our cohort of PXE patients and relatives.
PXE is inherited as an autosomal recessive disease, whereas only a few cases of autosomal dominant forms have been reported.
05 for carriers) and relatively smaller amounts of the disaccharide sulfated at the C-6 position of the galactosamine unit ([DELTA]Di-6s, -7% for PXE and -6% for carriers) with a significant decrease of nonsulfated disaccharide [[DELTA]Di-Os, -59% (P <0.