DISEASES

Disease-gene associations mined from literature

Literature associating FAN1 and karyomegalic interstitial nephritis

FAN1 [ENSP00000354497]

FANCD2/FANCI-associated nuclease 1; Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL- induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates. Not involved in DNA double-strand breaks resection. Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3'-flap annealing until it reaches and unhooks the ICL. Acts at sites that have a 5'-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3' flap. Also has endonuclease activity toward 5'-flaps.

Synonyms:  FAN1,  FAN1p,  hFAN1,  H3BQ24,  H3BUK3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM