KEGG   NETWORK: N00973
Entry
N00973                      Network                                

Name
Mutation-inactivated KCNC3 to transport of potassium
Definition
K+ // KCNC3* // K+(extracellular)
  Expanded
C00238 // 3748v1 // C00238
Class
nt06411 Potassium transport
nt06462 Spinocerebellar ataxia
Type
Variant
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H00063  Spinocerebellar ataxia (SCA)
Gene
3748  KCNC3; potassium voltage-gated channel subfamily C member 3
Variant
3748v1 (KCNC3*)  KCNC3 mutation
Metabolite
C00238  Potassium cation
C00238  Potassium cation
Reference
  Authors
Irie T, Matsuzaki Y, Sekino Y, Hirai H
  Title
Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells.
  Journal
J Physiol 592:229-47 (2014)
DOI:10.1113/jphysiol.2013.264309
Reference
  Authors
Bushart DD, Murphy GG, Shakkottai VG
  Title
Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease.
  Journal
Ann Transl Med 4:25 (2016)
DOI:10.3978/j.issn.2305-5839.2016.01.06
LinkDB

DBGET integrated database retrieval system