The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use at an assay dependent dilution. Detection limit for recombinant tagged ABCC6 is approximately 0.03ng/ml if used as a capture antibody.
1/500 - 1/1000. Detects a band of approximately 37 kDa (predicted molecular weight: 164 kDa).
功能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).
组织特异性Expressed in kidney and liver. Very low expression in other tissues.
疾病相关Defects in ABCC6 are the cause of pseudoxanthoma elasticum (PXE) [MIM:264800]. 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).