Exploring a role for SMIM1 as regulator of metal ion homeostasis and erythropoiesis

SMIM1 is a small and relatively newly described (Storry et al. Nature Genetics, 2013) transmembrane protein found on erythrocytes. We and others have investigated its biochemistry but its function remains largely unknown. Rare individuals who lack the protein have decreased levels of haemoglobin in their red cells but are otherwise healthy. However, the protein itself is well conserved in all vertebrates from fish to man, suggesting that this protein has an important role to play.
We hypothesised that SMIM1 plays a role in metal ion homeostasis, including iron and its transport into the cell as well as its possible role in oxidative stress. This project aims to tease apart the aspects of our hypothesis by various cell and molecular biology approaches and advanced biochemical methods.