Understanding
Okur-Chung Neurodevelopmental Syndrome
CSNK2A1 is the gene that is altered in OCNDS. It is a kinase, which is a type of protein that plays a fundamental role in cell signaling and regulation. Specifically, kinases are responsible for transferring a phosphate group from a molecule called ATP (adenosine triphosphate) to another molecule, often a protein, in a process called phosphorylation. This process is a crucial mechanism in cells, as it acts as a kind of molecular switch that can turn proteins on or off, leading to changes in their activity, function, or localization within the cell)