Disease-gene associations mined from literature

Literature associating FEN1 and fetal akinesia deformation sequence syndrome

FEN1 [ENSP00000305480]

Flap structure-specific endonuclease 1; Structure-specific nuclease with 5'-flap endonuclease and 5'-3' exonuclease activities involved in DNA replication and repair. During DNA replication, cleaves the 5'-overhanging flap structure that is generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. It enters the flap from the 5'-end and then tracks to cleave the flap base, leaving a nick for ligation. Also involved in the long patch base excision repair (LP-BER) pathway, by cleaving within the apurinic/apyrimidinic (AP) site-terminated flap. Acts as a genome stabilization factor that prevents flaps from equilibrating into structurs that lead to duplications and deletions. Also possesses 5'-3' exonuclease activity on nicked or gapped double- stranded DNA, and exhibits RNase H activity. Also involved in replication and repair of rDNA and in repairing mitochondrial DNA; Belongs to the XPG/RAD2 endonuclease family. FEN1 subfamily.

Synonyms:  FEN1,  FEN1p,  hFEN1,  B4DWZ4,  F5H1Y3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM