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ABCC6 cdna clone

Scan QR to view Datasheet Catalog #    MBS1271672 ABCC6 cdna clone
Unit / Price
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 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

ABCC6, cDNA Clone

 Also Known As   

ABCC6 cDNA Clone

 Product Gene Name   

ABCC6 cdna clone

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Molecular Biology Protocol    Molecular Biology Protocol
 Frequently Asked Questions    Frequently Asked Questions
 Sequence Positions    1220-1503
 Sequence    Please Inquire
 Chromosome Location    Chromosome: 16; NC_000016.9 (16243422..16317328, complement). Location: 16p13.1
 OMIM    177850
 3D Structure    ModBase 3D Structure for O95255
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 Vector    Please Inquire
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 ISO Certification    Manufactured in an ISO 9001:2008 Certified Laboratory.
 Other Notes    Small volumes of ABCC6 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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NCBI/Uniprot data below describe general gene information for ABCC6. It may not necessarily be applicable to this product.
 NCBI GI #    124297752
 NCBI GeneID    368
 NCBI Accession #    BC131732 [Other Products]
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 UniProt Primary Accession #    O95255 [Other Products]
 UniProt Secondary Accession #    P78420; Q8TCY8; Q9UMZ7 [Other Products]
 UniProt Related Accession #    O95255 [Other Products]
 Molecular Weight    164,906 Da
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 NCBI Official Full Name    Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6, mRNA
 NCBI Official Synonym Full Names    ATP-binding cassette, sub-family C (CFTR/MRP), member 6
 NCBI Official Symbol    ABCC6 [Similar Products]
 NCBI Official Synonym Symbols   
ARA; PXE; MLP1; MRP6; PXE1; URG7; ABC34; GACI2; MOATE; MOAT-E; EST349056
[Similar Products]
 NCBI Protein Information    URG7 protein; multidrug resistance-associated protein 6; ATP-binding cassette sub-family C member 6; multi-specific organic anion transporter E; anthracycline resistance-associated protein
 UniProt Protein Name    Multidrug resistance-associated protein 6
 UniProt Synonym Protein Names   
ATP-binding cassette sub-family C member 6; Anthracycline resistance-associated protein; Multi-specific organic anion transporter E
 Protein Family    ABC transporter C family
 UniProt Gene Name    ABCC6 [Similar Products]
 UniProt Synonym Gene Names    ARA; MRP6; MOAT-E [Similar Products]
 UniProt Entry Name    MRP6_HUMAN
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 NCBI Summary for ABCC6    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. [provided by RefSeq, Jul 2008]
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 UniProt Comments for ABCC6    ABCC6: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS). Defects in ABCC6 are the cause of pseudoxanthoma elasticum (PXE). PXE is a disorder characterized by calcification of elastic fibers in skin, arteries and retina that results in dermal lesions with associated laxity and loss of elasticity, arterial insufficiency and retinal hemorrhages leading to macular degeneration. PXE is caused in the overwhelming majority of cases by homozygous or compound heterozygous mutations in the ABCC6 gene (autosomal recessive PXE). Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype (autosomal dominant PXE). Defects in ABCC6 are the cause of arterial calcification of infancy, generalized, type 2 (GACI2). GACI2 is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily.

Protein type: Transporter; Membrane protein, integral; Membrane protein, multi-pass; Hydrolase; Transporter, ABC family

Chromosomal Location of Human Ortholog: 16p13.1

Cellular Component: endoplasmic reticulum membrane; basolateral plasma membrane; apical plasma membrane; integral to membrane; plasma membrane; nucleus; lateral plasma membrane

Molecular Function: ATPase activity, coupled to transmembrane movement of substances; transporter activity; ATP binding

Biological Process: response to drug; visual perception; transport; metabolic process; transmembrane transport

Disease: Arterial Calcification, Generalized, Of Infancy, 2; Pseudoxanthoma Elasticum, Forme Fruste; Pseudoxanthoma Elasticum
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 Research Articles on ABCC6    1. Mutations in the underlying disease genes ENPP1, ABCC6, NT5E, and SLC20A2, respectively, lead to arterial media calcification.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Pathways associated with ABCC6 cdna cloneDiseases associated with ABCC6 cdna clone
 Products by Pathway  Pathway Diagram
 ABC Transporters Pathway antibodies  ABC Transporters Pathway Diagram
 ABC Transporters Pathway antibodies  ABC Transporters Pathway Diagram
 ABC-family Proteins Mediated Transport Pathway antibodies  ABC-family Proteins Mediated Transport Pathway Diagram
 Transmembrane Transport Of Small Molecules Pathway antibodies  Transmembrane Transport Of Small Molecules Pathway Diagram
 Disease Name  Pubmed Publications
 Pseudoxanthoma Elasticum Antibodies  >225 publications with ABCC6 and Pseudoxanthoma Elasticum
 Disease Models, Animal Antibodies  >26 publications with ABCC6 and Disease Models, Animal
 Neoplasms Antibodies  >26 publications with ABCC6 and Neoplasms
 Heart Diseases Antibodies  >18 publications with ABCC6 and Heart Diseases
 Nervous System Diseases Antibodies  >17 publications with ABCC6 and Nervous System Diseases
 Liver Diseases Antibodies  >14 publications with ABCC6 and Liver Diseases
 Brain Diseases Antibodies  >14 publications with ABCC6 and Brain Diseases
 Inflammation Antibodies  >8 publications with ABCC6 and Inflammation
 Kidney Diseases Antibodies  >6 publications with ABCC6 and Kidney Diseases
 Gastrointestinal Diseases Antibodies  >6 publications with ABCC6 and Gastrointestinal Diseases
Organs/Tissues associated with ABCC6 cdna clone
 Organ/Tissue Name  Pubmed Publications
 Skin Antibodies  >110 publications with ABCC6 and Skin
 Connective Tissue Antibodies  >74 publications with ABCC6 and Connective Tissue
 Liver Antibodies  >52 publications with ABCC6 and Liver
 Eye Antibodies  >46 publications with ABCC6 and Eye
 Kidney Antibodies  >29 publications with ABCC6 and Kidney
 Brain Antibodies  >14 publications with ABCC6 and Brain
 Muscle Antibodies  >13 publications with ABCC6 and Muscle
 Intestine Antibodies  >8 publications with ABCC6 and Intestine
 Prostate Antibodies  >2 publications with ABCC6 and Prostate
 Lung Antibodies  >2 publications with ABCC6 and Lung
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