Dataset Information
Department of Pathology and Tumor Biology, Kyoto University Data Access Committee
Ontology highlight
ABSTRACT:
PROVIDER: EGAC00001000150 | EGA |
REPOSITORIES: EGA
Publications
Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.
American journal of human genetics 20150601 6
Fanconi anemia (FA) is a rare genetic disorder characterized by genome instability, increased cancer susceptibility, progressive bone marrow failure (BMF), and various developmental abnormalities resulting from the defective FA pathway. FA is caused by mutations in genes that mediate repair processes of interstrand crosslinks and/or DNA adducts generated by endogenous aldehydes. The UBE2T E2 ubiquitin conjugating enzyme acts in FANCD2/FANCI monoubiquitination, a critical event in the pathway. He ...[more]