SLC39A14 gene

From NCBI Gene:

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]

From UniProt:

From NCBI Gene:

• Hypermanganesemia with dystonia 2

From UniProt:

Hypermanganesemia with dystonia 2 (HMNDYT2): A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function. [MIM:617013]

Cytogenetic Location: 8p21.3, which is the short (p) arm of chromosome 8 at position 21.3

Molecular Location: base pairs 22,367,249 to 22,434,129 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

• cig19
• HMNDYT2
• LZT-Hs4
• NET34
• ZIP14