KEGG   VARIANT: 9474v1
Entry
9474v1                      Variant                                
Name
ATG5 mutation
Type
Loss of function
Gene
ATG5  autophagy related 5 [KO:K08339]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604261
Network
nt06532  Autophagy
Disease
H01891  Autosomal recessive spinocerebellar ataxias
Reference
  Authors
Zatyka M, Sarkar S, Barrett T
  Title
Autophagy in Rare (NonLysosomal) Neurodegenerative Diseases.
  Journal
J Mol Biol 432:2735-2753 (2020)
DOI:10.1016/j.jmb.2020.02.012
Reference
  Authors
Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M
  Title
Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.
  Journal
Elife 5:e12245 (2016)
DOI:10.7554/eLife.12245
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