KEGG   VARIANT: 546v1
Entry
546v1                      Variant                                 
Name
ATRX mutation
Gene
ATRX  ATRX chromatin remodeler [KO:K10779]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300032
Network
nt06512  Chromosome cohesion and segregation
Disease
H01752  ATR-X syndrome
H02583  X-linked intellectual disability-hypotonic facies syndrome
Reference
PMID:7697714
  Authors
Gibbons RJ, Picketts DJ, Villard L, Higgs DR
  Title
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
  Journal
Cell 80:837-45 (1995)
DOI:10.1016/0092-8674(95)90287-2
Reference
  Authors
Ritchie K, Seah C, Moulin J, Isaac C, Dick F, Berube NG
  Title
Loss of ATRX leads to chromosome cohesion and congression defects.
  Journal
J Cell Biol 180:315-24 (2008)
DOI:10.1083/jcb.200706083
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