TULP3-related disease is caused by changes, or mutations, in a gene called TULP3. This gene provides instructions for making a protein that helps move certain signalling molecules to a small structure on the surface of most cells called the primary cilium. The primary cilium acts like an antenna, helping cells sense and respond to their surroundings. When TULP3 does not work properly, these signals are disrupted, leading to abnormal repair and scarring processes in the body’s tissues.
Most people with this condition have two faulty copies of the TULP3gene (one from each parent). The mutations include nonsense and frameshift changes, which stop the gene from making a full protein, and splice-site mutations, which interfere with how the gene’s message is pieced together. Some people have missense mutations, where a single building block of the protein is changed, making the protein unstable or unable to function normally. Altogether, these are known as loss-of-function mutations, meaning the protein either isn’t made or doesn’t work properly.
TULP3