背景
This gene encodes a member of the the SLC39A family of divalent metal transporters that
mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein
contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif,
and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an
important transporter of nontransferrin-bound iron and a critical regulator of manganese
homeostasis. Naturally occurring mutations in this gene are associated with
neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with
hypermanganesemia.
