ABCB1
ABCB1: The Multifaceted Gatekeeper of Drug Transport and Metabolism
Description
ABCB1, also known as the multidrug resistance protein 1 (MDR1) or P-glycoprotein, is a transmembrane protein that plays a crucial role in the absorption, distribution, metabolism, and excretion (ADME) of drugs. It functions as an efflux pump, actively transporting a wide range of xenobiotics, including drugs, toxins, and metabolic waste products, out of cells. ABCB1 is expressed in various tissues throughout the body, including the liver, intestine, kidney, brain, and blood-brain barrier.
Associated Diseases
ABCB1 has been implicated in the development of several diseases, including:
- Multidrug resistance in cancer: ABCB1 overexpression is associated with resistance to chemotherapy drugs, limiting their efficacy in treating various cancers.
- Epilepsy: Mutations in the ABCB1 gene have been linked to certain types of epilepsy, affecting the pharmacokinetics of anticonvulsant drugs.
- Inflammatory bowel disease: Alterations in ABCB1 expression and function have been observed in patients with inflammatory bowel disease, impacting drug absorption and efficacy.
- Neurodegenerative disorders: Reduced ABCB1 activity has been associated with increased risk of Parkinson's disease and Alzheimer's disease, due to impaired clearance of neurotoxic substances.
Did you Know ?
The ABCB1 gene, located on chromosome 7q21.12, spans approximately 200 kilobases and contains 28 exons. It is one of the most highly polymorphic genes in the human genome, with over 500 known single nucleotide polymorphisms (SNPs). These genetic variations can influence ABCB1 expression and function, impacting drug response and disease susceptibility.
