Background information
The EF-hand domain is a twelve amino acid loop motif that is commonly found in proteins that participate in calcium-binding events within the cell. EF-hand domains generally exist in a pair that, together, form a stable four-helix bundle that enables the binding of calcium ions. EF-HA1 (EF-hand domain family, member A1) is a 434 amino acid protein that contains four EF-hand domains, suggesting a role in calcium-mediated events throughout the cell. The gene encoding EF-HA1 maps to human chromosome 13, which houses over 400 genes, such as BRCA2 and RB1, and comprises nearly 4% of the human genome. Trisomy 13, also known as Patau syndrome, is deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections.
