Human Multidrug resistance-associated protein 6 ELISA Kit | ABCC6 elisa kit
Human Multidrug resistance-associated protein 6 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: Hydrolase; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ABC family
Chromosomal Location of Human Ortholog: 16p13.11
Cellular Component: nucleus; plasma membrane
Molecular Function: anion transmembrane-transporting ATPase activity; ATPase activity, coupled to transmembrane movement of substances; transporter activity
Biological Process: response to drug; transmembrane transport; transport
Disease: Arterial Calcification, Generalized, Of Infancy, 2; Pseudoxanthoma Elasticum; Pseudoxanthoma Elasticum, Forme Fruste
Research Articles on ABCC6
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Product Notes
The Human ABCC6 abcc6 (Catalog #AAA9426456) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9426456 ELISA Kit recognizes Human ABCC6. It is sometimes possible for the material contained within the vial of "Multidrug resistance-associated protein 6, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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