KEGG VARIANT: 4287v1

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

Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway

Mutation-inactivated ATXN3 to autophagy-vesicle nucleation

Disease

Spinocerebellar ataxia (SCA)

Reference

Authors

Paulson H

Title

Spinocerebellar Ataxia Type 3

Journal

GeneReviews (1993)

Reference

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

All links

Disease (1)   
   KEGG DISEASE (1)   
Gene (1)   
   OMIMVAR (1)   
Literature (2)   
   PubMed (2)   
All databases (4)   

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