The human ABCB6 protein is the functional homologue of HMT-1 proteins mediating cadmium detoxification.

ABSTRACT: ABCB6 belongs to the family of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intra-cellular membranes, bearing significant impact on human disease and pharmacology. Although mutations in the ABCB6 gene have been linked to a variety of pathophysiological conditions ranging from transfusion incompatibility to pigmentation defects, its precise cellular localization and function is not understood. In particular, the intracellular localization of ABCB6 has been a matter of debate, with conflicting reports suggesting mitochondrial or endolysosomal expression. ABCB6 shows significant sequence identity to HMT-1 (heavy metal tolerance factor 1) proteins, whose evolutionarily conserved role is to confer tolerance to heavy metals through the intracellula

SUBMITTER: Rakvacs Z 

PROVIDER: S-EPMC6785578 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature