ABCG2 : ATP binding cassette subfamily G member 2 (JR blood group)
The ABCG2 Gene: A Multifaceted Gateway in the Body
Description:
The ABCG2 gene is an essential part of the ATP-binding cassette (ABC) family of genes, which encode proteins responsible for transporting molecules across cell membranes. In the intestines, the ABCG2 protein plays a crucial role in excreting urate, a byproduct of normal biochemical processes, into the urine. Urate, in turn, acts as a potent antioxidant in the bloodstream, protecting cells from damage caused by free radicals.
Associated Diseases:
Mutations in the ABCG2 gene have been linked to several diseases, including:
- Gout: Gout is a painful condition characterized by the accumulation of urate crystals in the joints, causing inflammation and swelling. Mutations in ABCG2 can impair urate excretion and contribute to the development of gout.
- Hyperuricemia: Hyperuricemia is a condition where urate levels in the blood are abnormally high. It can lead to gout and kidney stones. ABCG2 mutations can disrupt urate transport and contribute to hyperuricemia.
Did you Know ?
- ABCG2 is estimated to be responsible for the transport of over 30% of known anticancer drugs. Its ability to clear these drugs from cells allows them to target cancer cells effectively and limits their adverse effects on healthy tissues.
