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ABCC6
| Symbol: | ABCC6 | | Name(s): | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 | | Type: | protein-coding | | Organism: | Homo sapiens | | Synonyms: | ABC34, ARA, EST349056, MLP1, MOATE, MRP6, PXE, PXE1 | | Links: |
Pubmed,
Entrez Gene,
GeneCards,
BioGPS,
Map Viewer.
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Gene Information from Publications |
| Publication Link |
Summary of findings |
| 18253096 |
ABCC6 is the most important, and probably only, causative gene of pseudoxanthoma elasticum(PXE). In total, 188 different ABCC6 mutations have now been reported in PXE in the literature. |
| 12176944 |
Observational study of gene-disease association. (HuGE Navigator) |
| 14631379 |
Observational study of genetic testing. (HuGE Navigator) |
| 15727254 |
Observational study of genotype prevalence and genetic testing. (HuGE Navigator) |
| 16835894 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17617515 |
Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) |
| 18191640 |
Observational study of gene-disease association. (HuGE Navigator) |
| 17880583 |
This study shows elastic fibers like in the lesional skin of patients with a variety of inflammatory skin diseases in the absence of clinical evidence of pseudoxanthoma elasticum; and some of these patients harbor changes in ABCC6. |
| 17823974 |
ABCC6 genomic rearrangements may have a role in pseudoxanthoma elasticum in French patients |
| 17617515 |
ABCC6 mutations have a role in the pathogenesis of pseudoxanthoma elasticum | →View more information from publications. |
Recent Publications on ABCC6: |  |
Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum.
Pseudoxanthoma elasticum (PXE) is a heritable disorder affecting the skin,... | 3rd November, 2009
| Institut fur Laboratoriums- und Transfusionsmedizin, Herz- und
| Hum Mol Genet. 2009 Sep 1;18(17):3344-51. Epub 2009 May 30.
DOI Direct Link |
FUNDUS AUTOFLUORESCENCE IN PSEUDOXANTHOMA ELASTICUM.
PURPOSE:: Pseudoxanthoma elasticum (PXE) is an inherited multisystem... | 14th October, 2009
| From the *Department of Ophthalmology, University of Bonn, Bonn, Germany;
| Retina. 2009 Oct 9.
DOI Direct Link |
The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background-a model for pseudoxanthoma elasticum.
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder... | 29th September, 2009
| Department of Dermatology and Cutaneous Biology, Jefferson Medical
| J Mol Med. 2009 Sep 27.
DOI Direct Link |
Added Value of Infrared, Red-free and Autofluorescence Fundus Imaging in Pseudoxanthoma Elasticum.
PURPOSE: Pseudoxanthoma Elasticum (PXE) is an autosomal recessive disorder... | 4th September, 2009
| Ghent University Hospital, Belgium;
| Br J Ophthalmol. 2009 Sep 24.
DOI Direct Link |
Comparative gene expression profiles of ABC transporters in brain microvessel endothelial cells and brain in five species including human.
While P-glycoprotein (PGP, ABCB1) is known to play an important role in... | 2nd September, 2009
| XenoPort, Inc., 3410 Central Expressway, Santa Clara, CA 95051, USA.
| Pharmacol Res. 2009 Jun;59(6):404-13. Epub 2009 Feb 24.
DOI Direct Link |
→View more research publications. |
ABCC6 results (if any) from reagent suppliers | 
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Abgent - Cell and Function Antibodies
AT1006a, ABCC4 monoclonal antibody (M03), ELISA,IHC-P,WB-Ce,WB-Re, H. AT1007a, ABCC6 monoclonal antibody (M01), ELISA,S-ELISA,WB-Re, H ...
http://www.abgent.com/products/category/cell_function...
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Anti-CD31 Monoclonal Antibody
Monoclonal Antibody against CD31 for use in Flow Cytometry, Immunocytochemistry, Immunofluorescence, Immunohistochemistry (Frozen), Immunoprecipitation.
http://www.bioreagents.com/products/productDetails/productDe...
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NOMO1 antibody (ab79988) | Abcam
Mutations in ABCC6, which is located nearby, rather than mutations in NOMO are associated with pseudoxanthoma elasticum (PXE). ...
http://www.abcam.com/NOMO1-antibody-ab79988.html...
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MRP6 (M6II-31) Antibody sc-59618
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Human, ABCC6, 368, 16p13.11, NM_001171 ...
http://www.scbt.com/datasheet-59618-mrp6-m611-31-antibody.ht...
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Antibodies, Proteins and Peptides By Name (a)
ABCC6 · MA1-35685, Hu, FACS, ICC, IHC (F), WB, $625.87. ABCC6 · MA1-35686, Hu, FACS, ICC, IHC (F), WB, $625.87. ABCC6 · MA1-35687, Hu, FACS, ICC, IHC (P, ...
http://www.bioreagents.com/products/productLists/byNameProdu...
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MRP6 (S-20) Antibody sc-5787
An alternative splice variant in Abcc6, the gene causing dystrophic calcification, leads to protein deficiency in C3H/He mice. J Biol Chem. 283:
7608-7615. ...
http://www.scbt.com/pt/datasheet-5787-mrp6-s-20-antibody.htm...
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Blood & Coagulation System Antibodies
MA1-35684 · ABCC5, Hu, FACS, ICC, IHC (F), WB, $625.87. MA1-35685 · ABCC6, Hu, FACS, ICC, IHC (F), WB, $625.87. MA1-35686 · ABCC6, Hu, FACS, ICC, IHC (F), ...
http://www.bioreagents.com/products/productLists/productBrow...
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