ABCB1 Chromosome 7

ATP binding cassette subfamily B member 1
602 variants 599 Drug Response 3 Health Risk

Upload your DNA to see your personal genotypes for variants in ABCB1.

What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|ATP binding cassette subfamily B|ATPase phospholipid transporting"
Locus Type
gene with protein product
Location
7q21.12
Ensembl
ENSG00000085563
Associated Conditions (5)
Tramadol response
Hepatocellular carcinoma
ABCB1-related disorder
Idiopathic generalized epilepsy
COLCHICINE RESISTANCE
Key Variants
All Variants (602)
RSID Category Clinical Significance Conditions
RS750020655 Drug Response drug response Tramadol response, Tramadol response
RS751270575 Drug Response drug response Tramadol response, Tramadol response
RS752103700 Drug Response drug response Tramadol response, Tramadol response
RS753030816 Drug Response drug response Tramadol response, Tramadol response
RS753065601 Drug Response drug response Tramadol response, Tramadol response
RS754592414 Drug Response drug response Tramadol response, Tramadol response
RS755085099 Drug Response drug response Tramadol response, Tramadol response
RS755399685 Drug Response drug response Tramadol response, Tramadol response
RS756736504 Drug Response drug response Tramadol response, Tramadol response
RS756910860 Drug Response drug response Tramadol response, Tramadol response
RS757394498 Drug Response drug response Tramadol response, Tramadol response
RS758212180 Drug Response drug response Tramadol response, Tramadol response
RS758454815 Drug Response drug response Tramadol response, Tramadol response
RS759177745 Drug Response drug response Tramadol response, Tramadol response
RS759986853 Drug Response drug response Tramadol response, Tramadol response
RS761914266 Drug Response drug response Tramadol response, Tramadol response
RS762374613 Drug Response drug response Tramadol response, Tramadol response
RS762925936 Drug Response drug response Tramadol response, Tramadol response
RS763629745 Drug Response drug response Tramadol response, Tramadol response
RS764061195 Drug Response drug response Tramadol response, Tramadol response
RS764463583 Drug Response drug response Tramadol response, Tramadol response
RS766402999 Drug Response drug response Tramadol response, Tramadol response
RS768893111 Drug Response drug response Tramadol response, Tramadol response
RS769400173 Drug Response drug response Tramadol response, Tramadol response
RS773338757 Drug Response drug response Tramadol response, Tramadol response
RS776827328 Drug Response drug response Tramadol response, Tramadol response
RS778715012 Drug Response drug response Tramadol response, Tramadol response
RS779274456 Drug Response drug response Tramadol response, Tramadol response
RS779701045 Drug Response drug response Tramadol response, Tramadol response
RS780878256 Drug Response drug response Tramadol response, Tramadol response
RS7809208 Drug Response drug response Tramadol response, Tramadol response
RS781008688 Drug Response drug response Tramadol response, Tramadol response
RS868755 Drug Response drug response Tramadol response, Tramadol response
RS887308819 Drug Response drug response Tramadol response, Tramadol response
RS898222211 Drug Response drug response Tramadol response, Tramadol response
RS901502109 Drug Response drug response Tramadol response, Tramadol response
RS915714963 Drug Response drug response Tramadol response, Tramadol response
RS924572540 Drug Response drug response Tramadol response, Tramadol response
RS928039773 Drug Response drug response Tramadol response, Tramadol response
RS936689901 Drug Response drug response Tramadol response, Tramadol response
RS939340150 Drug Response drug response Tramadol response, Tramadol response
RS949343048 Drug Response drug response Tramadol response, Tramadol response
RS957318449 Drug Response drug response Tramadol response, Tramadol response
RS962879803 Drug Response drug response Tramadol response, Tramadol response
RS982764376 Drug Response drug response Tramadol response, Tramadol response
RS987724889 Drug Response drug response Tramadol response, Tramadol response
RS989584849 Drug Response drug response Tramadol response, Tramadol response
RS9282564 Drug Response Likely benign; drug response Tramadol response, ABCB1-related disorder, Tramadol response
RS201280497 Drug Response Uncertain significance; drug response Tramadol response, ABCB1-related disorder, Tramadol response
RS55852620 Health Risk Conflicting classifications of pathogenicity Tramadol response, Tramadol response
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