{"symbol":"ABCB1","synonyms":["ABC20","CD243","GP170","PGY1","MDR1","CLCS","P-GP"],"name":"ATP-binding cassette, sub-family B (MDR/TAP), member 1","description":"The membrane-associated 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). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017]","ncbiEntrezGeneId":5243,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5243","proteins":[{"symbol":"MDR1_HUMAN","href":"/api/1.0/protein/MDR1_HUMAN"}],"hgncRootFamilies":[{"name":"CD molecules (CD)","href":"/api/1.0/gene_family/CD+molecules+%28CD%29"},{"name":"ATP binding cassette transporters (ABC)","href":"/api/1.0/gene_family/ATP+binding+cassette+transporters+%28ABC%29"}]}