3 Ontology Annotations
GO Term | Gene Name |
---|---|
GO:0004842 | IPR026848 |
GO:0006281 | IPR026848 |
GO:0043240 | IPR026848 |
Type: | Family | Name: | E3 ubiquitin-protein ligase FANCL |
Description: | E3 ubiquitin-protein ligase FANCL belongs to the multisubunit FA complex. It is an ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the repair of interstrand DNA crosslinks (ICLs) in the Fanconi anemia (FA) pathway [, ]. In humans, defects in FANCL are the cause of Fanconi anemia complementation group L (FANCL). FANCL is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair [, ]. | Short Name: | Fancl |
GO Term | Gene Name |
---|---|
GO:0004842 | IPR026848 |
GO:0006281 | IPR026848 |
GO:0043240 | IPR026848 |