SLC30A10

The SLC30A10 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 and liver cells. The SLC30A10 protein is found in the membranes surrounding liver cells and nerve cells in the brain, as well as in the membranes of structures within these cells. The protein protects these cells from high concentrations of manganese by removing manganese when levels become elevated.

hypermanganesemia with dystonia, polycythemia, and cirrhosis - caused by mutations in the SLC30A10 gene

Several mutations in the SLC30A10 gene have been identified in people with hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC). This inherited disorder is characterized by high levels of manganese in the blood (hypermanganesemia). The disorder causes movement problems, such as involuntary tensing of the muscles (dystonia); an increased number of red blood cells (polycythemia); and liver abnormalities, including liver disease (cirrhosis).

Mutations in the SLC30A10 gene impair the transport of manganese out of the cell, allowing the element to build up in brain and liver cells. Manganese accumulates in a region of the brain that helps control movement, damaging nerve cells and leading to the movement problems characteristic of HMDPC. Damage caused by buildup of manganese in the liver causes the characteristic liver problems. High levels of manganese help increase the production of red blood cells, so excess amounts of this element also result in polycythemia.