KEGG   VARIANT: 29978v1
Entry
29978v1                      Variant                               
Name
UBQLN2 mutation
Gene
UBQLN2  ubiquilin 2 [KO:K04523]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300264
Network
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Reference
  Authors
Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, Yang Y, Fecto F, Shi Y, Zhai H, Jiang H, Hirano M, Rampersaud E, Jansen GH, Donkervoort S, Bigio EH, Brooks BR, Ajroud K, Sufit RL, Haines JL, Mugnaini E, Pericak-Vance MA, Siddique T
  Title
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
  Journal
Nature 477:211-5 (2011)
DOI:10.1038/nature10353
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