Gene: ABCB1

Alternate names for this Gene: ABC20|CD243|CLCS|GP170|MDR1|P-GP|PGY1

Gene Summary: 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q21.12

Description of this Gene: ATP binding cassette subfamily B member 1

Type of Gene: protein-coding

rs13233308 in ABCB1 gene and Blood Protein Measurement PMID 31320639 2019 Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936.

rs56364292 in ABCB1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs13233308 in ABCB1 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.