KEGG   VARIANT: 8913v1
Entry
8913v1                      Variant                                
Name
CACNA1G mutation
Type
Gain of function
Gene
CACNA1G  calcium voltage-gated channel subunit alpha1 G [KO:K04854]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604065
Network
nt06528  Calcium signaling
Disease
H00063  Spinocerebellar ataxia (SCA)
Reference
  Authors
Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschke P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V
  Title
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.
  Journal
Brain 141:1998-2013 (2018)
DOI:10.1093/brain/awy145
Reference
  Authors
Prestori F, Moccia F, D'Angelo E
  Title
Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA).
  Journal
Int J Mol Sci 21:E216 (2019)
DOI:10.3390/ijms21010216
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