DISEASES

Disease-gene associations mined from literature

Literature associating FANCI and Fanconi anemia complementation group J

FANCI [ENSP00000310842]

Fanconi anemia group I protein; 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.

Synonyms:  FANCI,  F8W7R3,  H3BMG4,  H3BN35,  H3BP78 ...

Linkouts:  STRING  Pharos  UniProt  OMIM