CORDIS Project
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This project investigates the SLC39A14 protein's role in manganese transport and its implications for a rare neurological disorder. It aims to identify genetic factors that could lead to new therapies for patients suffering from manganese accumulation.
Solute carriers (SLCs) are membrane proteins that mediate the transport of biological and inorganic molecules. SLC39A14 regulates the transport of manganese (Mn) into primarily liver and intestinal cells from the blood.
Bi-allelic loss of function (LOF) variants in SLC39A14 lead to an accumulation of blood Mn, which travels to the brain, causes significant deficits in motor function, eventually leads to the patients being non-ambulatory.
Accordingly, these patients are diagnosed with Hypermangan…
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