Sometimes, gene variants (also known as mutations) prevent one or more proteins from working properly. By changing a gene’s instructions for making a protein, a variant can cause a protein to malfunction or to not be produced at all.

What happens if there is a mutation in the regulatory gene?

An increasing number of the identified disease-related mutations occur in gene regulatory sequences. These regulatory mutations can disrupt transcription factor binding sites or create new ones. We have studied effects of mutations on transcription factor binding affinity computationally.

What can affect gene regulation?

Various factors, including genetic makeup, exposure to harmful substances, other environmental influences, and age, can affect expressivity. Both penetrance and expressivity can vary: People with the gene may or may not have the trait and, in people with the trait, how the trait is expressed can vary.