Gene Symbol | SLC39A14 |
Entrez Gene ID | 23516 |
Full Name | solute carrier family 39 member 14 |
Synonyms | HMNDYT2,LZT-Hs4,NET34,ZIP14,cig19 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, May 2017]. |
Disorder MIM: | |
Disorder Html: | Hypermanganesemia with dystonia 2, 617013 (3) |