KEGG   VARIANT: 2072v1
Entry
2072v1                      Variant                                
Name
ERCC4 mutation
Type
Loss of function
Gene
ERCC4  ERCC excision repair 4, endonuclease catalytic subunit [KO:K10848]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 133520
Network
nt06502  Nucleotide excision repair
nt06508  Interstrand crosslink repair
Disease
H00076  Cockayne syndrome
H00238  Fanconi anemia
H01428  Xeroderma pigmentosum
Reference
  Authors
Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T
  Title
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
  Journal
Am J Hum Genet 92:807-19 (2013)
DOI:10.1016/j.ajhg.2013.04.007
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