Isolation of a cDNA representing the Fanconi anemia complementation group E gene

Am J Hum Genet. 2000 Nov;67(5):1306-8. doi: 10.1016/S0002-9297(07)62959-0. Epub 2000 Sep 19.


Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome with at least seven different complementation groups. Four FA genes (FANCA, FANCC, FANCF, and FANCG) have been identified, and two other FA genes (FANCD and FANCE) have been mapped. Here we report the identification, by complementation cloning, of the gene mutated in FA complementation group E (FANCE). FANCE has 10 exons and encodes a novel 536-amino acid protein with two potential nuclear localization signals.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alternative Splicing / genetics
  • Amino Acid Sequence
  • Bangladesh / ethnology
  • Cloning, Molecular
  • DNA, Complementary / genetics
  • Exons / genetics
  • Fanconi Anemia / genetics*
  • Fanconi Anemia Complementation Group E Protein
  • Genetic Complementation Test*
  • Humans
  • Introns / genetics
  • Molecular Sequence Data
  • Mutation / genetics*
  • Nuclear Localization Signals
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / genetics*
  • Turkey / ethnology


  • DNA, Complementary
  • FANCE protein, human
  • Fanconi Anemia Complementation Group E Protein
  • Nuclear Localization Signals
  • Nuclear Proteins

Associated data

  • GENBANK/AF265210