KEGG   VARIANT: 5173v1
Entry
5173v1                      Variant                                
Name
PDYN mutation
Gene
PDYN  prodynorphin [KO:K15840]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 131340
Network
nt06462  Spinocerebellar ataxia
nt06466  Pathways of neurodegeneration
Disease
H00063  Spinocerebellar ataxia (SCA)
Reference
PMID:21035104
  Authors
Bakalkin G, Watanabe H, Jezierska J, Depoorter C, Verschuuren-Bemelmans C, Bazov I, Artemenko KA, Yakovleva T, Dooijes D, Van de Warrenburg BP, Zubarev RA, Kremer B, Knapp PE, Hauser KF, Wijmenga C, Nyberg F, Sinke RJ, Verbeek DS
  Title
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
  Journal
Am J Hum Genet 87:593-603 (2010)
DOI:10.1016/j.ajhg.2010.10.001
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