RTEL1 gene
RTEL1 gene | |
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Term | RTEL1 gene |
Short definition | RTEL1 gene - A gene that makes a protein involved in maintaining telomeres (the ends of chromosomes) and repairing DNA. Mutations (changes) in the RTEL1 gene have been found in a rare inherited disease called dyskeratosis congenita, which causes abnormal changes in the skin and nails and white patches in the mouth. |
Type | Cancer terms |
Specialty | Oncology |
Language | English |
Source | NCI |
Comments |
RTEL1 gene - A gene that makes a protein involved in maintaining telomeres (the ends of chromosomes) and repairing DNA. Mutations (changes) in the RTEL1 gene have been found in a rare inherited disease called dyskeratosis congenita, which causes abnormal changes in the skin and nails and white patches in the mouth. People with this condition are at 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
External links
- Medical encyclopedia article on RTEL1 gene
- Wikipedia's article - RTEL1 gene
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