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 E.
Immunogen Information
Immunogen
Synthetic peptide of human FANCE
Swissprot
Q9HB96
Synonyms
2810451D06RikAI415634AW209126FACEFAEFANCEFANCEFanconi anemia complementation group EFanconi anemia group E proteinOTTHUMP00000016254Protein FACERGD1561045