Recombinant Human ABCB6

Background

ABCB6 is a mitochondrial ATP-binding cassette transporter critical for the transport of porphyrins and precursors involved in heme biosynthesis. Localized to the outer mitochondrial membrane, ABCB6 facilitates the uptake of coproporphyrinogen III, a precursor in the heme biosynthesis pathway, enabling its conversion to protoporphyrin IX within mitochondria. ABCB6 is highly expressed in erythroid cells, liver, and other tissues with high heme demands, supporting processes such as oxygen transport and detoxification. In addition to its role in heme production, ABCB6 is involved in the cellular response to oxidative stress and drug metabolism. Mutations in ABCB6 have been associated with disorders like familial pseudohyperkalemia and dyschromatosis universalis hereditaria, affecting red blood cells and pigmentation, respectively. Dysregulation of ABCB6 impacts mitochondrial function and porphyrin transport, contributing to metabolic disorders and emphasizing its importance in maintaining cellular and systemic homeostasis.