Definition

A gene that makes a protein involved in protecting and maintaining telomeres (the ends of chromosomes) and in copying DNA. Mutations (changes) in the CTC1 gene may cause damage to chromosomes and DNA, which may lead to abnormal cell growth. CTC1 gene mutations 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.