RTEL1 gene
Term · Oncology and biomedicine · MLC-T-ONC-007511
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.
| Identifier | MLC-T-ONC-007511 |
|---|---|
| Field | Oncology and biomedicine |
| References | NCI Dictionary of Cancer Terms |
Record as JSON
{
"id": "MLC-T-ONC-007511",
"term": "RTEL1 gene",
"field": "Oncology and biomedicine",
"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.",
"references": [
"NCI Dictionary of Cancer Terms"
],
"url": "https://mlchart.com/terminology/oncology/rtel1-gene/"
}
Record 14,594 of 17,717 in Oncology and biomedicine terminology (MLC-0111). Request the full dataset.