KEGG   VARIANT: 1763v1
Entry
1763v1                      Variant                                
Name
DNA2 mutation
Type
Loss of function
Gene
DNA2  DNA replication helicase/nuclease 2 [KO:K10742]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601810
Network
nt06506  Double-strand break repair
nt06509  DNA replication
Disease
H00992  Seckel syndrome
H01118  Progressive external ophthalmoplegia
Reference
  Authors
Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M, Zheng L, Filosto M, Ferro MT, Ranieri M, Magri F, Peverelli L, Li H, Yuan YC, Corti S, Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP
  Title
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
  Journal
Am J Hum Genet 92:293-300 (2013)
DOI:10.1016/j.ajhg.2012.12.014
Reference
  Authors
Zheng L, Meng Y, Campbell JL, Shen B
  Title
Multiple roles of DNA2 nuclease/helicase in DNA metabolism, genome stability and human diseases.
  Journal
Nucleic Acids Res 48:16-35 (2020)
DOI:10.1093/nar/gkz1101
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