Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 11001585.
- Also identified by PMC identifier 1288571.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
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.
Medical subject headings
- Fanconi Anemia
- Genetic Complementation Test
- Mutation
- Nuclear Proteins