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The protein encoded by ABCC6 is a member of the superfamily of ATP-binding cassette (ABC) transporters. Additionally we are shipping ABCC6 Antibodies (29) and ABCC6 Proteins (12) and many more products for this protein.
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ABCC6 knockdown HepG2 cells show: 1) intracellular reductive stress; 2) cell cycle arrest in G1 phase; 3) upregulation of p21Cip p53 (show TP53 ELISA Kits) independent; and 4) downregulation of lamin A/C (show LMNA ELISA Kits). the absence of ABCC6 profoundly changes the HepG2 phenotype, suggesting that Pseudoxanthoma elasticum syndrome is a complex metabolic disease that is not exclusively related to the absence of pyrophosphate in the bloodstream.
ABCC6 deficiency can be rescued by 4-phenylbutyrate therapy in a mouse model expressing human variants
Biochemical and cell biological analyses demonstrate these mutations influence multiple steps in the biosynthetic pathway, minimally altering local domain structure but adversely impacting ABCC6 assembly and trafficking. The differential impacts on local and global protein structure are consistent with hierarchical folding and assembly of ABCC6.
The results suggest that a transmembrane domain is not required for transport function and that a cytosolic loop maintains ABCC6 in a targeting-competent state for the basolateral membrane and might be involved in regulating the nucleotide binding domains.
The results of this study showed that mtDNA(atp6 (show MT-ATP6 ELISA Kits)) variants were actively involved in schizophrenia in some families with maternal inheritance of this
Pseudoxanthoma elasticum is due to mutation of the ABCC6 gene on chromosome 16.
Membrane insertion and topology of the amino-terminal domain TMD0 of multidrug-resistance associated protein 6
A direct relationship between reduced ABCC6 levels and the expression of pro-mineralization genes in hepatocytes.
Minimal rescue of the morpholino-induced phenotype was achieved with eight of the nine mutant human ABCC6 mRNAs tested, implying pathogenicity. This study demonstrates that the Chinese PXE population harbors unique ABCC6 mutations.
Virtual screening expands this possibility to explore more compounds that can interact with ABCC6, and may aid in understanding the mechanisms leading to pseudoxanthoma elasticum
bisphosphonates may be helpful for prevention of mineral deposits in Pseudoxanthoma elasticum and generalized arterial calcification of infancy caused by mutations in the ABCC6 gene.
In a mouse model of CKD, ABCC6 protein expression was decreased in liver and kidney, however mRNA levels were unchanged.
In the Abcc6(-/-) genotype, dermal fibroblasts actively contribute to changes that promote matrix calcification; these cells can be further modulated with time by the calcified environment, contributing to the age-dependent progression.
This study showed that the expression of ABCC6 in liver is an important determinant of calcification in cardiac tissues in response to injuries
Magnesium oxide reduces carotid intima media thickness in Abcc6-/- mouse model for pseudoxanthoma elasticum.
Studied the role of genetic modulation and the role of diet in nephrocalcinosis using two established mouse models of ectopic mineralization, Abcc6(tm1Jfk) and Enpp1 (show ENPP1 ELISA Kits)(asj (show ARSJ ELISA Kits)) mice.
Report lower elasticity and increased myogenic tone without major changes in agonist-dependent contraction in aged Abcc6(-/-) mouse model of pseudoxanthoma elasticum.
the development of cardiac hypertrophy in the 24-month-old Abcc6(-/-) mice suggests that old pseudoxanthoma elasticum patients might be prone to developing late cardiopathy.
ABCC6 is in the basolateral membrane, mediating the sinusoidal efflux of a metabolite from the hepatocytes to systemic circulation.
A single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum.
The 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). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene.
ATP-binding cassette sub-family C member 6
, anthracycline resistance-associated protein
, multi-specific organic anion transporter E
, multidrug resistance-associated protein 6
, ATP-binding cassette, sub-family C, member 6
, multidrug resistance-associated protein-6
, ATP-binding cassette, sub-family C (CFTR/MRP), member 6
, MRP-like protein 1
, liver multidrug resistance-associated protein 6