KEGG   VARIANT: 5582v2
Entry
5582v2                      Variant                                
Name
PRKCG activating mutation
Gene
PRKCG  protein kinase C gamma [KO:K19663]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation H101Q
ClinVar: 13251
dbSNP: rs121918518
Variation
mutation S361G
ClinVar: 13250
dbSNP: rs121918517
Variation
mutation F643L
ClinVar: 13249
dbSNP: rs121918516
Network
nt06462  Spinocerebellar ataxia
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
Disease
H00063  Spinocerebellar ataxia (SCA)
Reference
  Authors
Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, Matsuda T, Seki T, Sakai N, Saito N
  Title
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.
  Journal
J Biol Chem 283:19854-63 (2008)
DOI:10.1074/jbc.M801492200
Reference
  Authors
Wong MMK, Hoekstra SD, Vowles J, Watson LM, Fuller G, Nemeth AH, Cowley SA, Ansorge O, Talbot K, Becker EBE
  Title
Neurodegeneration in SCA14 is associated with increased PKCgamma kinase activity, mislocalization and aggregation.
  Journal
Acta Neuropathol Commun 6:99 (2018)
DOI:10.1186/s40478-018-0600-7
Reference
  Authors
Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, Bird TD
  Title
The clinical and genetic spectrum of spinocerebellar ataxia 14.
  Journal
Neurology 64:1258-60 (2005)
DOI:10.1212/01.WNL.0000156801.64549.6B
Reference
  Authors
Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schols L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wullner U, Brice A, Riess O, Stevanin G
  Title
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
  Journal
Ann Neurol 58:720-9 (2005)
DOI:10.1002/ana.20628
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