DISEASES

Disease-gene associations mined from literature

Literature associating FANCI and congenital hypoplastic anemia

FANCI [ENSP00000310842]

Fanconi anemia, complementation group I; 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; Fanconi anemia complementation groups

Synonyms:  FANCI,  F8W7R3,  H3BMG4,  H3BN35,  H3BQE2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM