FEATURES

DESCRIPTION

Also known as FANCI_HUMAN, FANCI, KIAA1794. 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. Interacts with FANCD2; the interaction is direct. Interacts with FANCL. Interacts with MTMR15/FAN1 (PubMed:17412408, PubMed:17460694, PubMed:20603015, PubMed:21775430). Interacts with POLN (PubMed:19995904).

EXTERNAL LINKS

FANCI

Mutations

Mutation(s) distribution

Mutations table