Aliases for FANCL Gene
External Ids for FANCL Gene
Previous HGNC Symbols for FANCL Gene
Previous GeneCards Identifiers for FANCL Gene
This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]
GeneCards Summary for FANCL Gene
FANCL (FA Complementation Group L) is a Protein Coding gene. Diseases associated with FANCL include Fanconi Anemia, Complementation Group L and Vacterl Association. Among its related pathways are DNA Double-Strand Break Repair and BRCA1 Pathway. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase binding.
UniProtKB/Swiss-Prot Summary for FANCL Gene
Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.