Disease - Fanconi anemia complementation group T
- DefinitionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
- AcronymFANCT
- Keywords
- Cross references
Disclaimer
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.Related UniProtKB entry
Browse 1 entry- Ubiquitin-conjugating enzyme E2 T · Gene: UBE2T · Homo sapiens (Human) · EC:2.3.2.23 · 197 amino acids · Evidence at protein level · Annotation score: 5/5