KEGG   VARIANT: 4287v1
Entry
4287v1                      Variant                                
Name
ATXN3 mutation
Gene
ATXN3  ataxin 3 [KO:K11863]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607047
Network
nt06410  Calcium signaling
nt06413  Autophagy
nt06462  Spinocerebellar ataxia
  Element
N00957  Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway
N00962  Mutation-inactivated ATXN3 to autophagy-vesicle nucleation
Disease
H00063  Spinocerebellar ataxia (SCA)
Reference
PMID:20301375
  Authors
Paulson H
  Title
Spinocerebellar Ataxia Type 3
  Journal
GeneReviews (1993)
Reference
PMID:7874163
  Authors
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, et al.
  Title
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.
  Journal
Nat Genet 8:221-8 (1994)
DOI:10.1038/ng1194-221
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