Aliases for FANCL Gene
External Ids for FANCL Gene
Previous HGNC Symbols for FANCL Gene
Previous GeneCards Identifiers for FANCL Gene
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for FANCL Gene
FANCL (Fanconi Anemia Complementation Group L) is a Protein Coding gene. Diseases associated with FANCL include Fanconi Anemia, Complementation Group L and Fanconi Anemia, Complementation Group A. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase binding.
UniProtKB/Swiss-Prot 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.