DISEASES

Disease-gene associations mined from literature

Literature associating WRN and Bloom syndrome

WRN [ENSP00000298139]

Werner syndrome ATP-dependent helicase; Multifunctional enzyme that has both magnesium and ATP- dependent DNA-helicase activity and 3'->5' exonuclease activity towards double-stranded DNA with a 5'-overhang. Has no nuclease activity towards single-stranded DNA or blunt-ended double- stranded DNA. Binds preferentially to DNA substrates containing alternate secondary structures, such as replication forks and Holliday junctions. May play an important role in the dissociation of joint DNA molecules that can arise as products of homologous recombination, at stalled replication forks or during DNA repair. Alleviates stalling of DNA polymerases at the site of DNA lesions. Important for genomic integrity. Plays a role in the formation of DNA replication focal centers; stably associates with foci elements generating binding sites for RP-A (By similarity). Plays a role in double-strand break repair after gamma-irradiation; Exonucleases

Synonyms:  WRN,  Q14191,  Q14191p,  hQ14191,  RECQ3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM