Aliases for FANCI Gene
External Ids for FANCI Gene
Previous HGNC Symbols for FANCI Gene
Previous GeneCards Identifiers for FANCI 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 I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for FANCI Gene
FANCI (Fanconi Anemia Complementation Group I) is a Protein Coding gene. Diseases associated with FANCI include Fanconi Anemia, Complementation Group I and Fanconi Anemia, Complementation Group A. Among its related pathways are Fanconi anemia pathway and Formation of HIV elongation complex in the absence of HIV Tat. GO annotations related to this gene include DNA polymerase binding.
UniProtKB/Swiss-Prot for FANCI Gene
Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage.