Description:
A gene that makes an enzyme involved in protecting a certain type of RNA from damage, which helps the RNA perform its role in making proteins. Mutations (changes) in the USB1 gene have been found in Rothmund-Thomson syndrome, which increases the risk of skin cancer. Mutations in this gene have also been found in dyskeratosis congenita (DKC), which causes abnormal changes in the skin and nails and white patches inside the mouth. People with DKC have an increased risk of bone marrow failure (a condition in which the bone marrow does not make enough blood cells), myelodysplastic syndrome, pulmonary fibrosis (scarring of the lungs), and certain types of cancer.
