Description
Product Characteristics: Synonyms: ABC34, ABCC6, ARA, EST349056, MLP1, MOAT E, MOATE, MRP6, PXE, PXE1
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).
Target Information: 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]