As with all genes in humans, each person has two copies of the ZNF148 gene: one copy inherited from the mother and one copy inherited from the father. Each of the copies encodes for the ZNF148 protein, which is a molecule that is necessary for a cell to function properly. In people who have a change (mutation) in the ZNF148 gene one of the ZNF148 copies is defective due to this mutation. We assume that the mutations lead to either an abnormal ZNF148 protein which cannot fulfil its normal function anymore or to less ZNF148 protein. However there is not much known about the function of the ZNF148 protein, or how the mutated ZNF148 protein leads to the clinical symptoms observed in patients.
We do know that the ZNF148 protein is a so-called “zinc finger protein” that can recognize specific pieces of our DNA and can thereby regulate the function of other genes. For example, we hypothesize that ZNF148 can regulate the growth hormone receptor, and that in people with mutated ZNF148 this regulation is disturbed hence their short stature. However, more scientific research is needed to define the exact function of ZNF148.