ATP-binding cassette sub-family B member 6 (ABCB6) (ABCB6)

ATP-binding cassette sub-family B member 6 (ABCB6) is a half-transporter that functions as a homodimer to facilitate the ATP-dependent transport of substrates across biological membranes (UniProt Q9NP58 [1]). It is primarily localized to the outer mitochondrial membrane, where it plays a critical role in heme biosynthesis by transporting porphyrins, such as coproporphyrinogen III, into the mitochondria (Krishnamurthy et al., 2006 [4]). Additionally, ABCB6 is expressed on the plasma membrane of various cells, including red blood cells, where it defines the Langereis (Lan) blood group system (Helias et al., 2012 [3]). In the context of oncology, ABCB6 is associated with multidrug resistance, as its overexpression can lead to the efflux of certain chemotherapeutic agents like SN-38 and vincristine (NCBI Gene 10058 [2]). Mutations in the ABCB6 gene are linked to conditions such as dyschromatosis symmetrica hereditaria and familial pseudohyperkalemia (OMIM 605452 [5]). Understanding ABCB6 is vital for managing heme-related disorders, identifying transfusion risks, and optimizing cancer treatments.

Other names

MTABC3PRPUMATMitochondrial ABC transporter 3P-glycoprotein-related proteinUbiquitously expressed mammalian ABC transporterLangereis blood group antigenLan

ATP-dependent transport of porphyrins and other substrates across the mitochondrial and plasma membranes, influencing heme synthesis and cellular drug efflux.