Aliases for FANCA Gene
External Ids for FANCA Gene
Previous HGNC Symbols for FANCA Gene
Previous GeneCards Identifiers for FANCA 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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
GeneCards Summary for FANCA Gene
FANCA (FA Complementation Group A) is a Protein Coding gene. Diseases associated with FANCA include Fanconi Anemia, Complementation Group A and Pituitary Stalk Interruption Syndrome. Among its related pathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation.
UniProtKB/Swiss-Prot Summary for FANCA Gene
DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.