Definition

A gene that makes a protein involved in maintaining telomeres (the ends of chromosomes) and in repairing DNA. Mutations (changes) in the RTEL1 gene have been found in a rare, inherited condition called dyskeratosis congenita, which causes abnormal changes in the skin and nails and white patches inside the mouth. People with this condition 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.