| Primary Identifier | IPR019162 | Type | Domain |
| Short Name | FancL_WD-rpt_cont_dom |
| description | This entry represents a region of approximately 100 residues containing three WD repeats and six cysteine residues- possibly as three cysteine-bridges associated with FancL.FancL is the ubiquitin ligase protein that mediates ubiquitination of FancD2, a key step in the DNA damage pathway [, ]. FancL belongs to the multisubunit Fanconi anemia (FA) complex, which is composed of subunits: FancA, FancB, FancC, FancE, FancF, FancG, FancL/PHF9 and FancM. The WD repeats are required for interaction of FancL with other subunits of the FA complex [].In humans defects in FancL are a cause of Fanconi anemia (FA) (OMIM:227650), and the FA complex is not found in FA patients. FA is a genetically heterogeneous, autosomal recessive disorder characterised by progressive pancytopenia, a diverse assortment of congenital malformations, 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. |
