Molecular characteristics

UFM1 is a gene that plays a role in modifying proteins in cells. These modifications are called “ufmylation” and seem to be essential for proper brain function. Although the UFM1 gene is expressed in most tissues of the body, the brain is the very complex and delicate organ, and subtle changes, such as a dysfunction in ufmylation, can lead to prominent signs/symptoms (e.g., intellectual disability, developmental delay) as described in this article.