KEGG   VARIANT: 5111v1
Entry
5111v1                      Variant                                
Name
PCNA mutation
Type
Loss of function
Gene
PCNA  proliferating cell nuclear antigen [KO:K04802]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176740
Network
nt06502  Nucleotide excision repair
nt06506  Double-strand break repair
nt06509  DNA replication
Disease
H02014  Ataxia-telangiectasia-like syndrome
Reference
  Authors
Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH
  Title
Hypomorphic PCNA mutation underlies a human DNA repair disorder.
  Journal
J Clin Invest 124:3137-46 (2014)
DOI:10.1172/JCI74593
Reference
  Authors
Paul Solomon Devakumar LJ, Gaubitz C, Lundblad V, Kelch BA, Kubota T
  Title
Effective mismatch repair depends on timely control of PCNA retention on DNA by the Elg1 complex.
  Journal
Nucleic Acids Res 47:6826-6841 (2019)
DOI:10.1093/nar/gkz441
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