KEGG   VARIANT: 4361v1
Entry
4361v1                      Variant                                
Name
MRE11 mutation
Type
Loss of function
Gene
MRE11  MRE11 homolog, double strand break repair nuclease [KO:K10865]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600814
Network
nt06506  Double-strand break repair
Disease
H02014  Ataxia-telangiectasia-like syndrome
Reference
PMID:10612394
  Authors
Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, Jaspers NG, Raams A, Byrd PJ, Petrini JH, Taylor AM
  Title
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
  Journal
Cell 99:577-87 (1999)
DOI:10.1016/S0092-8674(00)81547-0
Reference
PMID:30783677
  Authors
Wang Z, Gong Y, Peng B, Shi R, Fan D, Zhao H, Zhu M, Zhang H, Lou Z, Zhou J, Zhu WG, Cong YS, Xu X
  Title
MRE11 UFMylation promotes ATM activation.
  Journal
Nucleic Acids Res 47:4124-4135 (2019)
DOI:10.1093/nar/gkz110
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