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Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues.
Disruption of Abcc6 in the mouse: Novel insight in the pathogenesis of pseudoxanthoma elasticum.
Che et al., "Identification of Abcc6 as the major causal gene for dystrophic cardiac calcification in mice through integrative genomics," Proceedings of the National Academy of Sciences of the United States of America, vol.
Scheffer et al., "Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum," Human Molecular Genetics, vol.
The purpose of this study was to determine whether frequent ABCC6 variants or hotspots exist in Japanese patients with AS.
Genomic DNA was isolated from peripheral white blood cells using a Gentra Puregene Blood Kit (Qiagen, Hilden, Germany); the DNA was used as a template for amplifying human ABCC6 genomic sequences.
ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.
Luminal [25] Abluminal [24] MRP6 (ABCC6) Yes [24, 27] Possible [46] Abluminal [24] BCRP (ABCG2) Yes [24] Yes[35] Luminal [25] ABC transporter Direction of Implications in pain-analgesics or (gene) efflux/influx anti-inflammatory drugs versus ABC transporters P-gp (ABCB1) Blood [25] There is an increased P-gp expression and dynamic redistribution between membrane domains of P-glycoprotein and caveolin-1 in peripheral inflammatory pain [26, 36, 37].
ABCC6 belongs to ATP-binding cassette transporter subfamily C and encodes a 165-kDa transmembrane protein termed multi-drug resistance-associated protein (MRP) 6.
Patients were divided into 2 groups according to the type of PXE-causative mutations in the ABCC6 gene.
PXE is caused by mutations in ABCC6 [4] (ATP-binding cassette subfamily C, member 6), a gene encoding for the multidrug resistance--associated protein 6 (MRP6), an ATP-binding cassette (ABC) transporter protein with an as-yet-unidentified function (2-7).
Cystic fibrosis is caused by mutations in CFTR (cystic fibrosis transmembrane conductance regulator), member 7 of the same ABC transporter subfamily as ABCC6. A candidate gene for PXE susceptibility is SPP1 (secreted phosphoprotein 1; previously OPN, osteopontin).
We and others have identified more than 100 PXE-associated mutations in the PXE candidate gene ABCC6 (9-16).
ABCC1 HsOD219905_ml 16.75 (0.13) ABCC2 Hs00166123_ml 19.57 (0.81) ABCC3 Hs0035B656_ml 16.72 (0.47) ABCC4 Hs00195260_ml 16.80 (0.24) ABCC5 Hs00194701_m1 19.72 (0.16) ABCC6 Hs00184566_m1 19.90 (0.52) ABCC7 Hs00357011_ml n.e.
PXE is a genetic disorder whose gene (ABCC6) encodes a transmembrane transporter called ABCC6/MRP6, with still unknown functions) (20-22).