Location via proxy:   [ UP ]  
[Report a bug]   [Manage cookies]                
KEGG   NETWORK: N00971
Entry
N00971                      Network                                
Name
Mutation-caused aberrant PDYN to transport of calcium
Definition
PDYN* -> NMDAR -> Ca2+
  Expanded
5173v1 -> (2902+(2903,2904,2905,2906)) -> C00076
Class
nt06462 Spinocerebellar ataxia
nt06466 Pathways of neurodegeneration
Type
Variant
Pathway
hsa05017  Spinocerebellar ataxia
Disease
H00063  Spinocerebellar ataxia (SCA)
Gene
5173  PDYN; prodynorphin
2902  GRIN1; glutamate ionotropic receptor NMDA type subunit 1
2903  GRIN2A; glutamate ionotropic receptor NMDA type subunit 2A
2904  GRIN2B; glutamate ionotropic receptor NMDA type subunit 2B
2905  GRIN2C; glutamate ionotropic receptor NMDA type subunit 2C
2906  GRIN2D; glutamate ionotropic receptor NMDA type subunit 2D
Variant
5173v1 (PDYN*)  PDYN mutation
Metabolite
C00076  Calcium cation
Reference
PMID:26169942
  Authors
Smeets CJ, Jezierska J, Watanabe H, Duarri A, Fokkens MR, Meijer M, Zhou Q, Yakovleva T, Boddeke E, den Dunnen W, van Deursen J, Bakalkin G, Kampinga HH, van de Sluis B, Verbeek DS
  Title
Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23.
  Journal
Brain 138:2537-52 (2015)
DOI:10.1093/brain/awv195
LinkDB

DBGET integrated database retrieval system