KEGG   VARIANT: 9711v1
Entry
9711v1                      Variant                                
Name
RUBCN mutation
Type
Loss of function
Gene
RUBCN  rubicon autophagy regulator [KO:K19330]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613516
Network
nt06532  Autophagy
Disease
H01891  Autosomal recessive spinocerebellar ataxias
Reference
PMID:23728897
  Authors
Assoum M, Salih MA, Drouot N, Hnia K, Martelli A, Koenig M
  Title
The Salih ataxia mutation impairs Rubicon endosomal localization.
  Journal
Cerebellum 12:835-40 (2013)
DOI:10.1007/s12311-013-0489-4
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