The RIC1 gene, located on chromosome 9, plays a crucial role in cell transport, especially in moving procollagen, a key protein for building tissues, within cells. This gene makes a protein that works with another protein to help procollagen travel from the Golgi apparatus (a cell structure) to outside the cell. In CATIFA syndrome, a specific mutation in the RIC1 gene (c.3794C>G) changes how the gene is read, causing it to either produce a faulty protein or stop early, which likely leads to the protein being broken down before it can function.
Studies in zebrafish, a common research model, show that without functional Ric1, procollagen gets stuck inside cells, leading to issues with bone and facial development. This blockage in procollagen movement likely causes the various symptoms seen in CATIFA syndrome, such as facial abnormalities and developmental delays.
RIC1