ABC34 antibody, ARA antibody, EST349056 antibody, GACI2 antibody, MLP1 antibody, MOAT-E antibody, MOATE antibody, MRP6 antibody, PXE antibody, PXE1 antibody, URG7 antibody, Abcc1b antibody, DCC antibody, Dyscalc1 antibody, Mrp6 antibody, dyscalc antibody, ATP binding cassette subfamily C member 6 antibody, ATP-binding cassette, sub-family C (CFTR/MRP), member 6 antibody, ABCC6 antibody, Abcc6 antibody
Background
The ATP-binding cassette transporter 6 (ABCC6) gene, also named as MRP6, is a cellular transmembrane protein transporter and belongs to ATP-binding cassette (ABC) family. ABCC6 is an ATP-dependent transporter contains two ATP-binding domains. It is mainly found in the liver, the proximal tubules of the kidneys and the intestines. ABCC6 is involved in a pathway of extracellular nucleotide metabolism and the regulation of tissue calcification. Mutations of ABCC6 leads to pseudoxanthoma elasticum (PXE) which is a rare autosomal recessive disorder. Mutations of ABCC6 can also lead generalized arterial calcification of infancy-2 (GACI2). 27848-1-AP detects two isoforms of ABCC6 protein around 165 kDa and 96 kDa in SDS-PAGE.