AGC1 deficiency is a genetic disorder caused by genetic changes (mutations) in both copies of the SLC25A12gene. These changes are each inherited from each parent.
A gene is a piece of code that holds the information for the assembly of proteins. In the case of patients with an AGC1 deficiency, the genetic code of the SLC25A12gene is changed which will result in a changed AGC1 protein that no longer works correctly.
The AGC1 protein works in the energy metabolism of our cells. Normally, glucose is used by the cell to produce our energy molecules, ATP. The AGC1 protein plays an important role in this process by transporting molecules of glutamate and aspartate in and out of the mitochondria (the cell’s energy factories). Glutamate and aspartate are downstream products of the breakdown of glucose. However, in people with AGC1 deficiency, this transportation does not work properly making it harder for the body to get energy.
Since our full metabolism is complex, it is very hard to determine one precise consequence of a defect AGC1 protein. That is why research is still being performed to fully understand this mechanism.
SLC25A12