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SLC39A14 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC39A14 gene

The SLC39A14 gene provides instructions for creating a protein essential for transporting manganese across cell membranes, playing a critical role in maintaining metal homeostasis.

Normal Function

The SLC39A14 gene provides instructions for making a protein that transports the element manganese across cell membranes. Manganese is important for many cellular functions, but large amounts are toxic, particularly to brain cells. The SLC39A14 protein is found in the membranes surrounding several types of cells, as well as in the membranes of structures within these cells. The protein is thought to transport excess manganese from the blood into liver cells so that it can be removed from the body through bile. Bile is a substance produced by the liver that is important for digestion and the removal of waste products.

The SLC39A14 protein may also transport other elements, including zinc, iron, and cadmium, across cell membranes. The importance of this transport in the body is not well understood.

Health Conditions Related to Genetic Changes

Hypermanganesemia with dystonia

At least five SLC39A14 gene mutations have been found to cause hypermanganesemia with dystonia 2, a condition that begins in early childhood and is characterized by high levels of manganese in the blood and brain (hypermanganesemia), involuntary tensing of the muscles (dystonia), and other movement problems. These mutations impair the transport of manganese into liver cells. As a result, the element cannot be removed from the body through bile. The excess manganese builds up in the blood and subsequently in brain cells, particularly cells in a region of the brain that helps control movement. High levels of manganese damage these cells, causing neurological problems that make controlling movement difficult.

Other Names for This Gene

  • cig19
  • HMNDYT2
  • KIAA0062
  • LIV-1 subfamily of ZIP zinc transporter 4
  • LZT-Hs4
  • NET34
  • solute carrier family 39 (metal ion transporter), member 14
  • solute carrier family 39 (zinc transporter), member 14
  • ZIP14
  • zrt- and Irt-like protein 14
  • Zrt-, Irt-like protein 14

Genomic Location

The SLC39A14 gene is found on chromosome 8.

Frequently Asked Questions

Because the defect lies in hepatic clearance rather than intestinal absorption, modest dietary restriction (limiting foods high in manganese such as nuts, whole grains, tea, and shellfish) may provide a small adjunct benefit, but it is not sufficient alone. The primary focus remains on chelation and monitoring; drastic dietary bans are unnecessary and can lead to nutritional deficiencies.
Yes. Since the condition follows an autosomal recessive inheritance pattern, siblings and future offspring have a 25 % risk of being affected if both parents are carriers. Targeted carrier testing allows families to make informed reproductive decisions and to identify at‑risk relatives who might benefit from early monitoring.
Diagnosis combines three steps: (1) measurement of serum and, if available, cerebrospinal fluid manganese levels (often markedly elevated); (2) brain MRI showing T1‑hyperintensity in the basal ganglia, especially the globus pallidus; and (3) molecular genetic testing confirming biallelic pathogenic variants in SLC39A14.
The main therapeutic approach is chelation with agents such as Na2CaEDTA or deferiprone, administered intravenously or orally under specialist supervision. Regular chelation cycles aim to reduce serum manganese and improve neurological symptoms. In addition, liver‑directed therapies (e.g., liver transplantation) have been reported in severe cases, but are experimental.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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