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] CIViC Summary for ABCB1 Gene
Forensic Context
A study in human leukocytes from severe burn patients identified the ABCB1 as a top gene with a sustained decreasing expression profile from the healthy state through the late recovery phase, classifying it as a key biomarker for burn recovery [Xu et al. DOI:10.1159/000493451]. In a separate human study, the ABCB1 was utilized as a marker for the manual annotation of endothelial cell clusters in an Alzheimer's disease single-nucleus RNA sequencing dataset [Xue et al. DOI:10.3233/JAD-230559].