Recombinant Human ABCB6 protein

ABCB6. a member of the ATP-binding cassette (ABC) transporter superfamily, is a transmembrane protein involved in the transport of various substrates across biological membranes. It is ubiquitously expressed in humans, with prominent localization to the mitochondria and lysosomes. Functionally, ABCB6 plays critical roles in heme biosynthesis, iron homeostasis, and cellular detoxification. It facilitates the transport of porphyrins and their intermediates, particularly coproporphyrinogen III, from the cytoplasm into mitochondria, a key step in heme synthesis. Additionally, ABCB6 is implicated in the trafficking of toxic metabolites, such as heavy metal-glutathione complexes, to lysosomes for sequestration or excretion, highlighting its role in cellular stress responses.

Recombinant ABCB6 protein is engineered using heterologous expression systems (e.g., mammalian, insect, or bacterial cells) to study its structure, function, and interactions. Purified recombinant ABCB6 retains ATPase activity and substrate-binding properties, enabling in vitro investigations into its transport mechanisms. Studies leveraging this protein have uncovered its involvement in pathological conditions, including iron-deficiency anemia, erythropoietic protoporphyria, and chemoresistance in cancers. ABCB6 overexpression in tumors has been linked to multidrug resistance by effluxing chemotherapeutic agents, making it a potential therapeutic target. Furthermore, mutations in the ABCB6 gene are associated with dysregulated heme metabolism, leading to rare genetic disorders. The development of recombinant ABCB6 has accelerated drug discovery efforts, allowing high-throughput screening of inhibitors or modulators to combat ABCB6-mediated resistance or metabolic dysfunctions. Ongoing research aims to resolve its crystal structure and elucidate substrate specificity, which could inform precision therapies targeting this transporter.