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SLC30A10 gene

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

SLC30A10 gene

The SLC30A10 gene is responsible for regulating manganese levels in the body, protecting the brain and liver from toxicity.

Normal Function

The SLC30A10 gene provides instructions for making a protein that transports the element manganese across cell membranes. While manganese is necessary for cellular function, it is toxic in high amounts.

The SLC30A10 protein protects cells by removing excess manganese. In the liver, it transports manganese out of cells and into bile, allowing the body to excrete the element as waste. It is also found in the membranes of nerve cells in the brain, where it prevents the accumulation of toxic levels of the element.

Health Conditions Related to Genetic Changes

Hypermanganesemia with dystonia

Mutations in the SLC30A10 gene cause a condition known as hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC). This inherited disorder results in dangerously high levels of manganese in the blood, brain, and liver.

The accumulation of manganese leads to several serious health problems:

  • Movement disorders: Manganese buildup in the brain damages nerve cells, causing involuntary muscle tensing (dystonia).
  • Liver disease: Damage caused by manganese accumulation leads to liver abnormalities, including irreversible scarring (cirrhosis).
  • Polycythemia: An increased number of red blood cells, which is stimulated by high levels of manganese.

Because the SLC30A10 protein is impaired, it cannot effectively transport manganese out of cells, leading to the toxic buildup characteristic of this disorder.

Frequently Asked Questions

Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) is inherited in an autosomal recessive pattern. This means that an individual must inherit two mutated copies of the SLC30A10 gene, one from each parent, to develop the condition. Parents who carry one mutated copy are typically asymptomatic carriers. If both parents are carriers, there is a 25 percent chance with each pregnancy that the child will inherit two mutated copies and develop the disorder, a 50 percent chance the child will be a carrier, and a 25 percent chance the child will inherit no mutated copies. Genetic counseling is recommended for families with a history of this condition to assess risks and discuss testing options.
Early signs often appear in infancy or early childhood and may be subtle initially. Common early indicators include developmental delays, particularly in motor skills, and abnormal muscle tone such as stiffness or involuntary movements (dystonia). Some infants may also present with feeding difficulties or poor weight gain. Because the symptoms can overlap with other neurological or metabolic disorders, early diagnosis often relies on a combination of clinical observation and specific laboratory tests, such as measuring manganese levels in the blood or urine, and imaging studies that may show characteristic changes in the brain or liver.
Currently, there is no specific cure for HMDPC, but management focuses on reducing manganese exposure and supporting organ function. Dietary modifications may be recommended to limit manganese intake, although this is challenging as manganese is present in many foods. More critically, medical management often involves addressing the liver disease, which is a primary site of manganese accumulation. In some cases, liver transplantation has been considered for patients with severe cirrhosis, as it can remove the damaged liver tissue that is unable to excrete manganese. Supportive care for movement disorders, such as physical therapy and medications to manage dystonia, is also a key component of long-term management.
Manganese accumulation in the liver causes direct toxicity to hepatocytes (liver cells), leading to inflammation, fibrosis, and eventually cirrhosis, which is irreversible scarring of the liver tissue. The liver is a major site for manganese storage and excretion, so when the SLC30A10 protein fails to transport manganese out of cells, the element builds up to toxic levels. While early-stage liver damage might potentially be mitigated by reducing manganese load, established cirrhosis is generally permanent. Regular monitoring of liver function tests and imaging is essential to track the progression of liver disease and to determine the need for advanced interventions such as liver transplantation.
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.