Human ATP-binding cassette, sub-family C (CFTR/MRP) , member 6 ELISA Kit | ABCC6 elisa kit
Human Multidrug resistance-associated protein 6, ABCC6 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: Membrane protein, multi-pass; Transporter; Membrane protein, integral; Transporter, ABC family; Hydrolase
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: transporter activity; ATPase activity, coupled to transmembrane movement of substances; 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
